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Article: Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Abaji, Mario / Gorokhova, Svetlana / Da Silva, Nathalie / Busa, Tiffany / Grelet, Maude / Missirian, Chantal / Sigaudy, Sabine / Philip, Nicole / Leturcq, France / Lévy, Nicolas / Krahn, Martin / Bartoli, Marc

Genes. 2022 July 19, v. 13, no. 7

2022

Abstract: Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical ...

Abstract	Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical to identify the exons that can be skipped without a significant deleterious effect on the protein function. Pathogenic variants in the DMD gene are responsible for Duchenne muscular dystrophy (DMD). We report for the first time a deletion of the in-frame exon 49 associated with a strikingly normal muscular phenotype. Based on this observation, and on previously known therapeutic approaches using exon skipping in DMD for other single exons, we aimed to extend the clinical use of exon skipping for patients carrying truncating mutations in exon 49. We first determined the precise genomic position of the exon 49 deletion in our patients. We then demonstrated the feasibility of skipping exon 49 using an in vitro AON (antisense oligonucleotide) approach in human myotubes carrying a truncating pathogenic variant as well as in healthy ones. This work is a proof of concept aiming to expand exon-skipping approaches for DMD exon 49.
Keywords	exons ; genomics ; humans ; muscular dystrophy ; myotubes ; oligonucleotides ; phenotype ; therapeutics
Language	English
Dates of publication	2022-0719
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13071277
Database	NAL-Catalogue (AGRICOLA)

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Article: Screening for genetic disorders.

Philip, Nicole

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

2003 Volume 19, Issue 7-8, Page(s) 436–439

Abstract: Introduction: Cerebral malformations can be genetically determined and/or part of complex syndromes. When the defect is detected during pregnancy, it important to rule out an associated genetic condition. Family history and detailed examination of fetal ...

Abstract	Introduction: Cerebral malformations can be genetically determined and/or part of complex syndromes. When the defect is detected during pregnancy, it important to rule out an associated genetic condition. Family history and detailed examination of fetal anatomy are needed. Discussion: Intrauterine growth retardation, as well as limb abnormalities (especially polydactyly) are strong indicators of a genetic condition in the context of a fetal cerebral malformation. A standard chromosomal analysis is needed in all cases. Fluorescent in situ hybridization (FISH) techniques using locus-specific probes that permit the detection of subtle chromosomal rearrangements and metabolic analyses may be indicated when a specific condition is suspected. As for molecular analyses, they have so far been mainly applicable to pregnancies at risk of a known disorder because of family history. The diagnosis consists of determining whether the fetus has inherited the causative mutation identified in the index case. When termination of pregnancy is elicited, a careful prenatal and postnatal examination is needed in order to give accurate genetic counseling for further pregnancies. Storage of fetal material allowing further molecular analyses is strongly recommended.
MeSH term(s)	Cells, Cultured ; Central Nervous System/abnormalities ; Central Nervous System Diseases/diagnosis ; Central Nervous System Diseases/genetics ; Family Health ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Testing ; Humans ; In Situ Hybridization, Fluorescence/methods ; Male ; Mass Screening ; Pregnancy ; Prenatal Diagnosis/methods ; Sensitivity and Specificity
Language	English
Publishing date	2003-08
Publishing country	Germany
Document type	Comparative Study ; Journal Article
ZDB-ID	605988-0
ISSN	1433-0350 ; 0256-7040 ; 0302-2803
ISSN (online)	1433-0350
ISSN	0256-7040 ; 0302-2803
DOI	10.1007/s00381-003-0779-0
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Article ; Online: SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Grelet, Maude / Mortreux, Jérémie / Alazard, Emilie / Sigaudy, Sabine / Philip, Nicole / Missirian, Chantal

Clinical dysmorphology

2019 Volume 28, Issue 4, Page(s) 205–210

Abstract: Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-level ...

Abstract	Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-level somatic mosaicism. In most of the cases, mosaicism has been reported for pathogenic single nucleotide variants with only a few cases of copy number variation mosaicism described so far. Herein, we present the first case of parental somatic and gonadal copy number variation mosaicism in the SATB2 gene. We report three brothers presenting with the SATB2-associated syndrome. They all carry the same 121-kb heterozygous intragenic deletion of SATB2. Parental somatic mosaicism was detected by array-comparative genomic hybridization on a maternal blood sample and confirmed by Fluorescence in situ hybridization analysis on blood and buccal cells. This clinical report highlights the importance of investigating for parental somatic mosaicism to estimate the proper recurrence risk for subsequent pregnancy.
MeSH term(s)	Comparative Genomic Hybridization ; DNA Copy Number Variations ; Facies ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Matrix Attachment Region Binding Proteins/genetics ; Mosaicism ; Pedigree ; Phenotype ; Real-Time Polymerase Chain Reaction ; Syndrome ; Transcription Factors/genetics
Chemical Substances	Matrix Attachment Region Binding Proteins ; SATB2 protein, human ; Transcription Factors
Language	English
Publishing date	2019-08-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000293
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Article ; Online: Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Genes

2022 Volume 13, Issue 7

Abstract	Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical to identify the exons that can be skipped without a significant deleterious effect on the protein function. Pathogenic variants in the DMD gene are responsible for Duchenne muscular dystrophy (DMD). We report for the first time a deletion of the in-frame exon 49 associated with a strikingly normal muscular phenotype. Based on this observation, and on previously known therapeutic approaches using exon skipping in DMD for other single exons, we aimed to extend the clinical use of exon skipping for patients carrying truncating mutations in exon 49. We first determined the precise genomic position of the exon 49 deletion in our patients. We then demonstrated the feasibility of skipping exon 49 using an in vitro AON (antisense oligonucleotide) approach in human myotubes carrying a truncating pathogenic variant as well as in healthy ones. This work is a proof of concept aiming to expand exon-skipping approaches for DMD exon 49.
MeSH term(s)	Dystrophin/genetics ; Exons/genetics ; Humans ; Muscle Fibers, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/therapeutic use
Chemical Substances	Dystrophin ; Oligonucleotides, Antisense
Language	English
Publishing date	2022-07-19
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13071277
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Article ; Online: Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.

Philip, Nicole / Bassett, Anne

Behavior genetics

2011 Volume 41, Issue 3, Page(s) 403–412

Abstract: 22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the ... ...

Abstract	22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, associated developmental delays made it clear that changes in brain development were a key part of the expression. Once patients were followed through childhood into adult years, further neurobehavioural phenotypes became apparent, including a changing cognitive profile, anxiety disorders and seizure diathesis. The variability of expression is as wide as for the myriad physical features associated with the syndrome, with the addition of evolving phenotype over the developmental trajectory. Notably, variability appears unrelated to length of the associated deletion. Several mouse models of the deletion have been engineered and are beginning to reveal potential molecular mechanisms for the cognitive and behavioural phenotypes observable in animals. Both animal and human studies hold great promise for further discoveries relevant to neurodevelopment and associated cognitive, behavioural and psychiatric disorders.
MeSH term(s)	Adult ; Animals ; Anxiety Disorders/diagnosis ; Anxiety Disorders/genetics ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Cognition Disorders/diagnosis ; Cognition Disorders/genetics ; Disease Models, Animal ; Gene Expression/genetics ; Genetic Variation/genetics ; Genotype ; Humans ; Mice ; Phenotype ; Schizophrenia/diagnosis ; Schizophrenia/genetics ; Seizures/diagnosis ; Seizures/genetics
Language	English
Publishing date	2011-05-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	280238-7
ISSN	1573-3297 ; 0005-7851 ; 0001-8244
ISSN (online)	1573-3297
ISSN	0005-7851 ; 0001-8244
DOI	10.1007/s10519-011-9468-z
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Article ; Online: An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.

Guivarch, Jokthan / Chatel, Clarisse / Mortreux, Jeremie / Missirian, Chantal / Philip, Nicole / Poinso, François

Journal of medical case reports

2018 Volume 12, Issue 1, Page(s) 79

Abstract: Background: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations ...

Abstract	Background: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders. There are only 34 reported cases with this chromosomal deletion, and five cases of autism spectrum disorders have been identified among them. The autistic phenotype associated with this microdeletion has never been described. Case presentation: We describe the case of a 44-month-old Caucasian girl with the 2q13 microdeletion and autism spectrum disorders with global development delay but no associated organ anomalies. We examined the autistic phenotype using different workups and observed an atypical phenotype defined by relatively preserved relational competency and imitation abilities. Conclusions: The main contribution of this case report is the precise description of the autistic phenotype in the case of this deletion. We observed some atypical clinical features that could be markers of this genetic anomaly. We have discussed the pathophysiology of autism associated with this microdeletion and its incomplete penetrance and variable expressivity.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Child, Preschool ; Chromosome Deletion ; Female ; Humans ; Phenotype
Language	English
Publishing date	2018-03-18
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2269805-X
ISSN	1752-1947 ; 1752-1947
ISSN (online)	1752-1947
ISSN	1752-1947
DOI	10.1186/s13256-018-1620-4
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Article ; Online: Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

Busa, Tiffany / Panait, Nicoleta / Chaumoitre, Kathia / Philip, Nicole / Missirian, Chantal

European journal of medical genetics

2016 Volume 59, Issue 10, Page(s) 546–548

Abstract: Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 ... ...

Abstract	Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Chromosomes, Human, Pair 7/genetics ; Comparative Genomic Hybridization ; Esophageal Atresia/complications ; Esophageal Atresia/genetics ; Esophageal Atresia/physiopathology ; Hedgehog Proteins/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Sequence Deletion ; Tracheoesophageal Fistula/complications ; Tracheoesophageal Fistula/genetics ; Tracheoesophageal Fistula/physiopathology
Chemical Substances	Hedgehog Proteins ; SHH protein, human
Language	English
Publishing date	2016-10
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2016.09.001
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Article ; Online: Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Mouthon, Linda / Busa, Tiffany / Bretelle, Florence / Karmous-Benailly, Houda / Missirian, Chantal / Philip, Nicole / Sigaudy, Sabine

American journal of medical genetics. Part A

2019 Volume 179, Issue 12, Page(s) 2365–2373

Abstract: Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term prognosis ... ...

Abstract	Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016. Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy-number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH. Use of high-throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.
MeSH term(s)	Fetus/abnormalities ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Imaging ; Mandibulofacial Dysostosis/diagnosis ; Mandibulofacial Dysostosis/genetics ; Micrognathism/diagnosis ; Micrognathism/genetics ; Patient Outcome Assessment ; Phenotype ; Prenatal Diagnosis/methods ; Retrospective Studies ; Ultrasonography, Prenatal
Language	English
Publishing date	2019-09-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61359
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Article ; Online: Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Busa, Tiffany / Caietta, Emilie / Chabrol, Brigitte / Girard, Nadine / Philip, Nicole / Missirian, Chantal

Clinical dysmorphology

2017 Volume 26, Issue 1, Page(s) 47–49

MeSH term(s)	Child ; Chromosome Deletion ; Chromosomes, Human, X ; Comparative Genomic Hybridization ; Cytoskeletal Proteins/genetics ; GTPase-Activating Proteins/genetics ; Genetic Association Studies ; Humans ; Intelligence ; Male ; Nuclear Proteins/genetics ; Phenotype ; Sequence Deletion
Chemical Substances	Cytoskeletal Proteins ; GTPase-Activating Proteins ; Nuclear Proteins ; OPHN1 protein, human
Language	English
Publishing date	2017-01
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000139
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Article ; Online: Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Busa, Tiffany / Jeraiby, Mohammed / Clémenson, Alix / Manouvrier, Sylvie / Granados, Viviana / Philip, Nicole / Touraine, Renaud

American journal of medical genetics. Part A

2017 Volume 173, Issue 11, Page(s) 3114–3117

Abstract: CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome ... ...

Abstract	CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.
MeSH term(s)	Child, Preschool ; Cleft Lip/diagnosis ; Cleft Lip/genetics ; Cleft Lip/physiopathology ; Cleft Palate/diagnosis ; Cleft Palate/genetics ; Cleft Palate/physiopathology ; Consanguinity ; Exome/genetics ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Eye Abnormalities/physiopathology ; Eyelid Diseases/diagnosis ; Eyelid Diseases/genetics ; Eyelid Diseases/physiopathology ; Female ; Fetus ; Hair Diseases/diagnosis ; Hair Diseases/genetics ; Hair Diseases/physiopathology ; Homozygote ; Humans ; Infant, Newborn ; Knee/abnormalities ; Knee/physiopathology ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Language Development Disorders/physiopathology ; Male ; Mutation ; Nails, Malformed/diagnosis ; Nails, Malformed/genetics ; Nails, Malformed/physiopathology ; Protein-Serine-Threonine Kinases/genetics ; Syndactyly/diagnosis ; Syndactyly/genetics ; Syndactyly/physiopathology
Chemical Substances	RIPK4 protein, human (EC 2.7.1.-) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2017-09-21
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38475
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