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  1. Article ; Online: Strategies to improve retention in randomised trials.

    Gillies, Katie / Kearney, Anna / Keenan, Ciara / Treweek, Shaun / Hudson, Jemma / Brueton, Valerie C / Conway, Thomas / Hunter, Andrew / Murphy, Louise / Carr, Peter J / Rait, Greta / Manson, Paul / Aceves-Martins, Magaly

    The Cochrane database of systematic reviews

    2021  Volume 3, Page(s) MR000032

    Abstract: Background: Poor retention of participants in randomised trials can lead to missing outcome data which can introduce bias and reduce study power, affecting the generalisability, validity and reliability of results. Many strategies are used to improve ... ...

    Abstract Background: Poor retention of participants in randomised trials can lead to missing outcome data which can introduce bias and reduce study power, affecting the generalisability, validity and reliability of results. Many strategies are used to improve retention but few have been formally evaluated.
    Objectives: To quantify the effect of strategies to improve retention of participants in randomised trials and to investigate if the effect varied by trial setting.
    Search methods: We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Scopus, PsycINFO, CINAHL, Web of Science Core Collection (SCI-expanded, SSCI, CPSI-S, CPCI-SSH and ESCI) either directly with a specified search strategy or indirectly through the ORRCA database. We also searched the SWAT repository to identify ongoing or recently completed retention trials. We did our most recent searches in January 2020.
    Selection criteria: We included eligible randomised or quasi-randomised trials of evaluations of strategies to increase retention that were embedded in 'host' randomised trials from all disease areas and healthcare settings. We excluded studies aiming to increase treatment compliance.
    Data collection and analysis: We extracted data on: the retention strategy being evaluated; location of study; host trial setting; method of randomisation; numbers and proportions in each intervention and comparator group. We used a risk difference (RD) and 95% confidence interval (CI) to estimate the effectiveness of the strategies to improve retention. We assessed heterogeneity between trials. We applied GRADE to determine the certainty of the evidence within each comparison.
    Main results: We identified 70 eligible papers that reported data from 81 retention trials. We included 69 studies with more than 100,000 participants in the final meta-analyses, of which 67 studies evaluated interventions aimed at trial participants and two evaluated interventions aimed at trial staff involved in retention. All studies were in health care and most aimed to improve postal questionnaire response. Interventions were categorised into broad comparison groups: Data collection; Participants; Sites and site staff; Central study management; and Study design. These intervention groups consisted of 52 comparisons, none of which were supported by high-certainty evidence as determined by GRADE assessment. There were four comparisons presenting moderate-certainty evidence, three supporting retention (self-sampling kits, monetary reward together with reminder or prenotification and giving a pen at recruitment) and one reducing retention (inclusion of a diary with usual follow-up compared to usual follow-up alone). Of the remaining studies, 20 presented GRADE low-certainty evidence and 28 presented very low-certainty evidence. Our findings do provide a priority list for future replication studies, especially with regard to comparisons that currently rely on a single study.
    Authors' conclusions: Most of the interventions we identified aimed to improve retention in the form of postal questionnaire response. There were few evaluations of ways to improve participants returning to trial sites for trial follow-up. None of the comparisons are supported by high-certainty evidence. Comparisons in the review where the evidence certainty could be improved with the addition of well-done studies should be the focus for future evaluations.
    MeSH term(s) Case Management ; Correspondence as Topic ; Humans ; Patient Compliance/psychology ; Patient Compliance/statistics & numerical data ; Patient Dropouts/statistics & numerical data ; Patient Selection ; Randomized Controlled Trials as Topic/statistics & numerical data ; Reward ; Surveys and Questionnaires
    Language English
    Publishing date 2021-03-06
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't ; Systematic Review
    ISSN 1469-493X
    ISSN (online) 1469-493X
    DOI 10.1002/14651858.MR000032.pub3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Hypoplastic thumb in Gorlin's syndrome.

    Kansal, A / Brueton, L / Lahiri, A / Lester, R

    Journal of plastic, reconstructive & aesthetic surgery : JPRAS

    2007  Volume 60, Issue 4, Page(s) 440–442

    Abstract: Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. This condition is due to mutations in the Patched (PTCH) ... ...

    Abstract Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. This condition is due to mutations in the Patched (PTCH) gene which maps to chromosome 9q22 and acts as a tumour suppressor gene. Gorlin's syndrome is characterized by the development of multiple jaw keratocysts and/or basal carcinomas. There is a distinctive coarse facial appearance with macrocephaly, frontal bossing and prognathism. Most individuals have skeletal anomalies such as bifid ribs or wedge-shaped vertebrae. We present a case in which the patient presented with bilateral thumb hypoplasia. Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of the second and third fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been reported previously. These features of Gorlin's syndrome may be helpful diagnostically. The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees of hypoplasia are easy to miss. However, they still needs a specialist input to give the patient an optimum function of the thumb and the hand.
    MeSH term(s) Basal Cell Nevus Syndrome ; Humans ; Infant ; Male ; Polydactyly/diagnosis ; Thumb/abnormalities ; Thumb/surgery ; Treatment Outcome
    Language English
    Publishing date 2007
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2217750-4
    ISSN 1878-0539 ; 1748-6815 ; 0007-1226
    ISSN (online) 1878-0539
    ISSN 1748-6815 ; 0007-1226
    DOI 10.1016/j.bjps.2006.06.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Kinetics of uptake of L-leucine and glycylsarcosine into normal and protein malnourished young rat jejunum.

    Miller, P M / Burston, D / Brueton, M J / Matthews, D M

    Pediatric research

    1984  Volume 18, Issue 6, Page(s) 504–508

    Abstract: ... the uptake of the peptide glycylsarcosine (Gly-Sar) and the amino acid L-leucine. The animals had been weaned ...

    Abstract The impact of malnutrition on peptide and amino acid absorption has been studied in the immediate postweaning period. At this time peptide uptake is quantitatively more important than amino acid uptake and the vulnerability of the infant to malnutrition is great. Everted rings of rat jejunum were used to investigate the uptake of the peptide glycylsarcosine (Gly-Sar) and the amino acid L-leucine. The animals had been weaned on to isocaloric diets containing 18% or 4% protein. The rats deprived of protein at this age showed a marked growth disturbance with considerable reduction in gut length in addition to poor weight gain. Mediated influx of Gly-Sar and leucine per centimeter of jejunum was reduced in the malnourished animals: Vmax, 77 +/- 7.1 (SEM) and 65 +/- 3.6 compared with 85 +/- 10.6 and 77 +/- 4.4 nmol . min-1 . cm-1., respectively. But, when expressed in relation to body weight, the maximal transport capacity showed a marked increase with malnutrition, values being 126 and 111 nmol-1 . cm-1 . 100 g-1 body weight compared with 39 and 35 nmol-1 . cm-1 . 100 g-1 body weight for Gly-Sar and leucine respectively.
    MeSH term(s) Animals ; Biological Transport ; Body Weight ; Dipeptides/metabolism ; Intestinal Absorption ; Jejunum/metabolism ; Kinetics ; Leucine/metabolism ; Male ; Protein-Energy Malnutrition/metabolism ; Rats ; Weaning
    Chemical Substances Dipeptides ; glycylsarcosine (29816-01-1) ; Leucine (GMW67QNF9C)
    Language English
    Publishing date 1984-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1203/00006450-198406000-00003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Measuring the impact of methodological research: a framework and methods to identify evidence of impact.

    Brueton, Valerie C / Vale, Claire L / Choodari-Oskooei, Babak / Jinks, Rachel / Tierney, Jayne F

    Trials

    2014  Volume 15, Page(s) 464

    Abstract: Background: Providing evidence of impact highlights the benefits of medical research to society. Such evidence is increasingly requested by research funders and commonly relies on citation analysis. However, other indicators may be more informative. ... ...

    Abstract Background: Providing evidence of impact highlights the benefits of medical research to society. Such evidence is increasingly requested by research funders and commonly relies on citation analysis. However, other indicators may be more informative. Although frameworks to demonstrate the impact of clinical research have been reported, no complementary framework exists for methodological research. Therefore, we assessed the impact of methodological research projects conducted or completed between 2009 and 2012 at the UK Medical Research Council Clinical Trials Unit Hub for Trials Methodology Research Hub, with a view to developing an appropriate framework.
    Methods: Various approaches to the collection of data on research impact were employed. Citation rates were obtained using Web of Science (http://www.webofknowledge.com/) and analyzed descriptively. Semistructured interviews were conducted to obtain information on the rates of different types of research output that indicated impact for each project. Results were then pooled across all projects. Finally, email queries pertaining to methodology projects were collected retrospectively and their content analyzed.
    Results: Simple citation analysis established the citation rates per year since publication for 74 methodological publications; however, further detailed analysis revealed more about the potential influence of these citations. Interviews that spanned 20 individual research projects demonstrated a variety of types of impact not otherwise collated, for example, applications and further developments of the research; release of software and provision of guidance materials to facilitate uptake; formation of new collaborations and broad dissemination. Finally, 194 email queries relating to 6 methodological projects were received from 170 individuals across 23 countries. They provided further evidence that the methodologies were impacting on research and research practice, both nationally and internationally. We have used the information gathered in this study to adapt an existing framework for impact of clinical research for use in methodological research.
    Conclusions: Gathering evidence on research impact of methodological research from a variety of sources has enabled us to obtain multiple indicators and thus to demonstrate broad impacts of methodological research. The adapted framework developed can be applied to future methodological research and thus provides a tool for methodologists to better assess and report research impacts.
    MeSH term(s) Access to Information ; Bibliometrics ; Biomedical Research/methods ; Biomedical Research/statistics & numerical data ; Clinical Trials as Topic/methods ; Clinical Trials as Topic/statistics & numerical data ; Diffusion of Innovation ; Electronic Mail ; Evidence-Based Medicine/methods ; Evidence-Based Medicine/statistics & numerical data ; Humans ; Information Dissemination ; Interviews as Topic ; Periodicals as Topic ; Research Design/statistics & numerical data ; United Kingdom
    Language English
    Publishing date 2014-11-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2040523-6
    ISSN 1745-6215 ; 1468-6694 ; 1745-6215
    ISSN (online) 1745-6215
    ISSN 1468-6694 ; 1745-6215
    DOI 10.1186/1745-6215-15-464
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.

    Vogt, J / Hill, S / Brueton, L

    European journal of medical genetics

    2006  Volume 49, Issue 5, Page(s) 439–443

    MeSH term(s) Abnormalities, Multiple/genetics ; Aneuploidy ; Charcot-Marie-Tooth Disease/genetics ; Child, Preschool ; Chromosomes, Human, Pair 17/genetics ; Chromosomes, Human, Pair 22/genetics ; Developmental Disabilities/genetics ; Face/abnormalities ; Female ; Fetal Growth Retardation/genetics ; Fingers/abnormalities ; Growth Disorders/genetics ; Humans ; Karyotyping ; Male ; Phenotype ; Pregnancy ; Toes/abnormalities ; Translocation, Genetic
    Language English
    Publishing date 2006-09
    Publishing country Netherlands
    Document type Case Reports ; Letter
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2006.01.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.

    Ong, K R / Visram, S / McKaig, S / Brueton, L A

    European journal of medical genetics

    2006  Volume 49, Issue 2, Page(s) 187–193

    Abstract: We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. ...

    Abstract We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. This constellation of findings has been previously described in three case reports as Heimler syndrome, first documented in 1991.
    MeSH term(s) Amelogenesis Imperfecta/diagnosis ; Child ; Child, Preschool ; Female ; Hearing Loss, Sensorineural/diagnosis ; Humans ; Nails, Malformed/diagnosis ; Syndrome ; Twins, Monozygotic
    Language English
    Publishing date 2006-03
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Review ; Twin Study
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2005.07.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Use of strategies to improve retention in primary care randomised trials: a qualitative study with in-depth interviews.

    Brueton, V C / Stevenson, F / Vale, C L / Stenning, S P / Tierney, J F / Harding, S / Nazareth, I / Meredith, S / Rait, G

    BMJ open

    2014  Volume 4, Issue 1, Page(s) e003835

    Abstract: Objective: To explore the strategies used to improve retention in primary care randomised trials.: Design: Qualitative in-depth interviews and thematic analysis.: Participants: 29 UK primary care chief and principal investigators, trial managers ... ...

    Abstract Objective: To explore the strategies used to improve retention in primary care randomised trials.
    Design: Qualitative in-depth interviews and thematic analysis.
    Participants: 29 UK primary care chief and principal investigators, trial managers and research nurses.
    Methods: In-depth face-to-face interviews.
    Results: Primary care researchers use incentive and communication strategies to improve retention in trials, but were unsure of their effect. Small monetary incentives were used to increase response to postal questionnaires. Non-monetary incentives were used although there was scepticism about the impact of these on retention. Nurses routinely used telephone communication to encourage participants to return for trial follow-up. Trial managers used first class post, shorter questionnaires and improved questionnaire designs with the aim of improving questionnaire response. Interviewees thought an open trial design could lead to biased results and were negative about using behavioural strategies to improve retention. There was consensus among the interviewees that effective communication and rapport with participants, participant altruism, respect for participant's time, flexibility of trial personnel and appointment schedules and trial information improve retention. Interviewees noted particular challenges with retention in mental health trials and those involving teenagers.
    Conclusions: The findings of this qualitative study have allowed us to reflect on research practice around retention and highlight a gap between such practice and current evidence. Interviewees describe acting from experience without evidence from the literature, which supports the use of small monetary incentives to improve the questionnaire response. No such evidence exists for non-monetary incentives or first class post, use of which may need reconsideration. An exploration of barriers and facilitators to retention in other research contexts may be justified.
    MeSH term(s) Communication ; Female ; Humans ; Interviews as Topic ; Male ; Motivation ; Patient Participation/statistics & numerical data ; Primary Health Care ; Qualitative Research ; Randomized Controlled Trials as Topic/methods ; Research Subjects/statistics & numerical data ; Surveys and Questionnaires
    Language English
    Publishing date 2014-01-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2599832-8
    ISSN 2044-6055
    ISSN 2044-6055
    DOI 10.1136/bmjopen-2013-003835
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

    Fullston, T / Finnis, M / Hackett, A / Hodgson, B / Brueton, L / Baynam, G / Norman, A / Reish, O / Shoubridge, C / Gecz, J

    Clinical genetics

    2011  Volume 80, Issue 6, Page(s) 510–522

    Abstract: ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectual disability (ID). ARX is a transcription factor with multiple domains that include four polyalanine (pA) tracts, ... ...

    Abstract ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectual disability (ID). ARX is a transcription factor with multiple domains that include four polyalanine (pA) tracts, the first two of which are frequently expanded by mutations. We progressively screened DNA samples from 613 individuals with ID initially for the most frequent ARX mutations (c.304ins(GCG)(7)'expansion' of pA1 and c.429_452dup 'dup24bp' of pA2). Five hundred samples without pA1 or pA2 mutations had the entire ARX ORF screened by single stranded polymorphism conformation (SSCP) and/or denaturing high pressure liquid chromatography (dHPLC) analysis. Overall, eight families with six mutations in ARX were identified (1.31%): five duplication mutations in pA2 (0.82%) with three new clinical reports of families with the dup24bp and two duplications larger than the dup24bp mutation discovered (dup27bp, dup33bp); and three point mutations (0.6%), including one novel mutation in the homeodomain (c.1074G>T). Four ultraconserved regions distal to ARX (uc466-469) were also screened in a subset of 94 patients, with three unique nucleotide changes identified in two (uc466, uc467). The subcellular localization of full length ARX proteins was assessed for 11 variants. Protein mislocalization increased as a function of pA2 tract length and phenotypic severity, as has been previously suggested for pA1. Similarly, protein mislocalization of the homeodomain mutations also correlated with clinical severity, suggesting an emerging genotype vs cellular phenotype correlation.
    MeSH term(s) Autistic Disorder/diagnosis ; Autistic Disorder/genetics ; Base Sequence ; Child ; Child, Preschool ; Chromosome Duplication ; Cohort Studies ; Conserved Sequence ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Female ; Genetic Association Studies ; Genetic Testing/methods ; HEK293 Cells ; Homeodomain Proteins/genetics ; Homeodomain Proteins/metabolism ; Humans ; Infant ; Male ; Mutation ; Mutation Rate ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Transcription Factors/genetics ; Transcription Factors/metabolism
    Chemical Substances ARX protein, human ; Homeodomain Proteins ; Transcription Factors
    Language English
    Publishing date 2011-12
    Publishing country Denmark
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/j.1399-0004.2011.01685.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: What are the most important unanswered research questions in trial retention? A James Lind Alliance Priority Setting Partnership: the PRioRiTy II (Prioritising Retention in Randomised Trials) study.

    Brunsdon, Dan / Biesty, Linda / Brocklehurst, Peter / Brueton, Valerie / Devane, Declan / Elliott, Jim / Galvin, Sandra / Gamble, Carrol / Gardner, Heidi / Healy, Patricia / Hood, Kerenza / Jordan, Joan / Lanz, Doris / Maeso, Beccy / Roberts, Amanda / Skene, Imogen / Soulsby, Irene / Stewart, Derek / Torgerson, David /
    Treweek, Shaun / Whiting, Caroline / Wren, Sharon / Worrall, Andrew / Gillies, Katie

    Trials

    2019  Volume 20, Issue 1, Page(s) 593

    Abstract: Background: One of the top three research priorities for the UK clinical trial community is to address the gap in evidence-based approaches to improving participant retention in randomised trials. Despite this, there is little evidence supporting ... ...

    Abstract Background: One of the top three research priorities for the UK clinical trial community is to address the gap in evidence-based approaches to improving participant retention in randomised trials. Despite this, there is little evidence supporting methods to improve retention. This paper reports the PRioRiTy II project, a Priority Setting Partnership (PSP) that identified and prioritised unanswered questions and uncertainties around trial retention in collaboration with key stakeholders.
    Methods: This PSP was conducted in collaboration with the James Lind Alliance, a non-profit making initiative, to support key stakeholders (researchers, patients, and the public) in jointly identifying and agreeing on priority research questions. There were three stages. (1) First an initial online survey was conducted consisting of six open-ended questions about retention in randomised trials. Responses were coded into thematic groups to create a longlist of questions. The longlist of questions was checked against existing evidence to ensure that they had not been answered by existing research. (2) An interim stage involved a further online survey where stakeholders were asked to select questions of key importance from the longlist. (3) A face-to-face consensus meeting was held, where key stakeholder representatives agreed on an ordered list of 21 unanswered research questions for methods of improving retention in randomised trials.
    Results: A total of 456 respondents yielded 2431 answers to six open-ended questions, from which 372 questions specifically about retention were identified. Further analysis included thematically grouping all data items within answers and merging questions in consultation with the Steering Group. This produced 27 questions for further rating during the interim survey. The top 21 questions from the interim online survey were brought to a face-to-face consensus meeting in which key stakeholder representatives prioritised the order. The 'Top 10' of these are reported in this paper. The number one ranked question was 'What motivates a participant's decision to complete a clinical trial?' The entire list will be available at www.priorityresearch.ie .
    Conclusion: The Top 10 list can inform the direction of future research on trial methods and be used by funders to guide projects aiming to address and improve retention in randomised trials.
    MeSH term(s) Consensus ; Cooperative Behavior ; Evidence-Based Medicine ; Health Priorities ; Humans ; Interdisciplinary Communication ; Patient Dropouts ; Patient Selection ; Randomized Controlled Trials as Topic/methods ; Research Design ; Stakeholder Participation ; United Kingdom
    Language English
    Publishing date 2019-10-15
    Publishing country England
    Document type Consensus Development Conference ; Journal Article ; Systematic Review
    ZDB-ID 2040523-6
    ISSN 1745-6215 ; 1468-6694 ; 1745-6215
    ISSN (online) 1745-6215
    ISSN 1468-6694 ; 1745-6215
    DOI 10.1186/s13063-019-3687-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Craniodiaphyseal dysplasia.

    Brueton, L A / Winter, R M

    Journal of medical genetics

    1990  Volume 27, Issue 11, Page(s) 701–706

    MeSH term(s) Abnormalities, Multiple/genetics ; Diagnosis, Differential ; Facial Bones/abnormalities ; Facial Expression ; Humans ; Hypertrophy ; Radiography ; Skull/abnormalities ; Skull/diagnostic imaging
    Language English
    Publishing date 1990-11
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg.27.11.701
    Database MEDical Literature Analysis and Retrieval System OnLINE

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