LIVIVO - Search results -

Search results

Result 1 - 9 of total 9

Search options

Article ; Online: Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier, Lisse J M / Fransen, Erik / Valgaeren, Hanne / Van Camp, Guy

2021 Volume 141, Issue 3-4, Page(s) 939–950

Abstract: Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50-60% of the patients, the disease is present in a familial form. In most of these families, otosclerosis ... ...

Abstract	Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50-60% of the patients, the disease is present in a familial form. In most of these families, otosclerosis seems to be caused by a small number of genetic factors (oligogenic) while only in a small number of families the disease seems to be truly monogenic. In the remaining patients a complex genetic form of otosclerosis is present. Several studies have aimed to identify the genetic factors underlying otosclerosis, which has led to the identification of eight published loci for monogenic otosclerosis, as well as several genes and one chromosomal region (11q13.1) with a clear association with otosclerosis. Implementation of next-generation sequencing (NGS) in otosclerosis research has led to the identification of pathogenic variants in MEPE, ACAN and SERPINF1, although the pathogenic role of the latter is under debate. In addition, a recent GWAS can be considered a breakthrough for otosclerosis as it identified several strong associations with otosclerosis and suggested new potential candidate genes. These recent findings are important for unraveling the genetic architecture of otosclerosis. More future studies will help to understand the complete pathogenesis of the disease.
MeSH term(s)	Ear, Inner ; Humans ; Multifactorial Inheritance ; Otosclerosis/genetics
Language	English
Publishing date	2021-09-09
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-021-02357-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 256: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: A new perspective on the genetics of keratoconus: why have we not been more successful?

Valgaeren, Hanne / Koppen, Carina / Van Camp, Guy

Ophthalmic genetics

2017 Volume 39, Issue 2, Page(s) 158–174

Abstract: Twin studies and family studies suggest an important genetic basis for keratoconus (KC). Involvement and association of several genes with the disease has been reported. Additionally, genes associated with central corneal thickness (CCT) and corneal ... ...

Abstract	Twin studies and family studies suggest an important genetic basis for keratoconus (KC). Involvement and association of several genes with the disease has been reported. Additionally, genes associated with central corneal thickness (CCT) and corneal curvature (CC) via genome-wide association studies (GWAS), also potentially underlie KC. Although a long list of genes has been reported for KC, the evidence for a pathogenic role for most genes remains limited. Furthermore, if the involvement of the reported genes in KC development can be proven, they only account for a limited number of patients. VSX1, ZNF469, SOD1, and miR184 have been most frequently investigated, but only mutations in miR184 indisputably underlie corneal abnormalities. For the three other genes, analysis of the minor allele frequencies (MAF) in public databases argues against a pathogenic role for most reported variants. For the remainder of variants, functional evidence is needed to prove their contribution to the pathogenesis. Despite the large amount of studies, clear results remain rare. A possible explanation for the cumbersome gene-identification is that genetic defects underlying KC are located in regions that are understudied (such as non-coding regions) or that KC is not as monogenic (= one gene with large effect size) as initially considered. Since many of the applied research strategies can only identify large effect mutations, strategies to identify variants with smaller effect sizes might lead to more progress in KC research.
MeSH term(s)	Eye Proteins/genetics ; Genetic Linkage ; Genome-Wide Association Study ; High-Throughput Nucleotide Sequencing ; Homeodomain Proteins/genetics ; Humans ; Keratoconus/epidemiology ; Keratoconus/genetics ; Mutation ; Transcription Factors/genetics
Chemical Substances	Eye Proteins ; Homeodomain Proteins ; Transcription Factors
Language	English
Publishing date	2017-11-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2017.1393831
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1708: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Fransen, Erik / Valgaeren, Hanne / Janssens, Katleen / Sommen, Manou / De Ridder, Raphael / Vandeweyer, Geert / Bisceglia, Luigi / Soler, Vincent / Hoischen, Alexander / Mortier, Geert / Malecaze, François / Koppen, Carina / Van Camp, Guy

European journal of human genetics : EJHG

2021 Volume 29, Issue 12, Page(s) 1745–1755

Abstract: The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein functions has been challenging. In this study, we selected 34 candidate genes for KC based on ... ...

Abstract	The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein functions has been challenging. In this study, we selected 34 candidate genes for KC based on previous whole-exome sequencing (WES) and the literature, and resequenced them in 745 KC patients and 810 ethnically matched controls from Belgium, France and Italy. Data analysis was performed using the single variant association test as well as gene-based mutation burden and variance components tests. In our study, we detected enrichment of genetic variation across multiple gene-based tests for the genes COL2A1, COL5A1, TNXB, and ZNF469. The top hit in the single variant association test was obtained for a common variant in the COL12A1 gene. These associations were consistently found across independent subpopulations. Interestingly, COL5A1, TNXB, ZNF469 and COL12A1 are all known Ehlers-Danlos Syndrome (EDS) genes. Though the co-occurrence of KC and EDS has been reported previously, this study is the first to demonstrate a consistent role of genetic variants in EDS genes in the etiology of KC. In conclusion, our data show a shared genetic etiology between KC and EDS, and clearly confirm the currently disputed role of ZNF469 in disease susceptibility for KC.
MeSH term(s)	Collagen Type II/genetics ; Collagen Type V/genetics ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Humans ; Keratoconus/diagnosis ; Keratoconus/genetics ; Sequence Analysis, DNA ; Tenascin/genetics ; Transcription Factors/genetics
Chemical Substances	COL2A1 protein, human ; COL5A1 protein, human ; Collagen Type II ; Collagen Type V ; Tenascin ; Transcription Factors ; ZNF469 protein, human ; tenascin X
Language	English
Publishing date	2021-03-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-021-00849-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Accuracy and Reproducibility of Low-Dose Submillisievert Chest CT for the Diagnosis of COVID-19.

Dangis, Anthony / Gieraerts, Christopher / De Bruecker, Yves / Janssen, Lode / Valgaeren, Hanne / Obbels, Dagmar / Gillis, Marc / Van Ranst, Marc / Frans, Johan / Demeyere, Annick / Symons, Rolf

Radiology. Cardiothoracic imaging

2020 Volume 2, Issue 2, Page(s) e200196

Abstract: Purpose: To demonstrate the accuracy and reproducibility of low-dose submillisievert chest CT for the diagnosis of coronavirus disease 2019 (COVID-19) infection in patients in the emergency department.: Materials and methods: This was a Health ... ...

Abstract	Purpose: To demonstrate the accuracy and reproducibility of low-dose submillisievert chest CT for the diagnosis of coronavirus disease 2019 (COVID-19) infection in patients in the emergency department. Materials and methods: This was a Health Insurance Portability and Accountability Act-compliant, institutional review board-approved retrospective study. From March 14 to 24, 2020, 192 patients in the emergency department with symptoms suggestive of COVID-19 infection were studied by using low-dose chest CT and real-time reverse transcription polymerase chain reaction (RT-PCR). Image analysis included the likelihood of COVID-19 infection and the semiquantitative extent of lung involvement. CT images were analyzed by two radiologists blinded to the RT-PCR results. Reproducibility was assessed using the McNemar test and intraclass correlation coefficient. Time between CT acquisition and report was measured. Results: When compared with RT-PCR, low-dose submillisievert chest CT demonstrated excellent sensitivity, specificity, positive predictive value, negative predictive value, and accuracy for diagnosis of COVID-19 (86.7%, 93.6%, 91.1%, 90.3%, and 90.2%, respectively), in particular in patients with clinical symptoms for more than 48 hours (95.6%, 93.2%, 91.5%, 96.5%, and 94.4%, respectively). In patients with a positive CT result, the likelihood of disease increased from 43.2% (pretest probability) to 91.1% or 91.4% (posttest probability), while in patients with a negative CT result, the likelihood of disease decreased to 9.6% or 3.7% for all patients or those with clinical symptoms for >48 hours. The prevalence of alternative diagnoses based on chest CT in patients without COVID-19 infection was 17.6%. The mean effective radiation dose was 0.56 mSv ± 0.25 (standard deviation). Median time between CT acquisition and report was 25 minutes (interquartile range: 13-49 minutes). Intra- and interreader reproducibility of CT was excellent (all intraclass correlation coefficients ≥ 0.95) without significant bias in the Bland-Altman analysis. Conclusion: Low-dose submillisievert chest CT allows for rapid, accurate, and reproducible assessment of COVID-19 infection in patients in the emergency department, in particular in patients with symptoms lasting longer than 48 hours. Chest CT has the additional advantage of offering alternative diagnoses in a significant subset of patients.© RSNA, 2020.
Language	English
Publishing date	2020-04-21
Publishing country	United States
Document type	Journal Article
ISSN	2638-6135
ISSN (online)	2638-6135
DOI	10.1148/ryct.2020200196
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Insufficient evidence for a role of SERPINF1 in otosclerosis.

Valgaeren, Hanne / Sommen, Manou / Beyens, Matthias / Vandeweyer, Geert / Schrauwen, Isabelle / Schepers, Anne / Schatteman, Isabelle / Topsakal, Vedat / Dhooge, Ingeborg / Kunst, Henricus / Zanetti, Diego / Huber, Alexander M / Hoischen, Alexander / Fransen, Erik / Van Camp, Guy

Molecular genetics and genomics : MGG

2019 Volume 294, Issue 4, Page(s) 1001–1006

Abstract: Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with ... ...

Abstract	Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with familial otosclerosis. To unravel the contribution of genetic variation in this gene to otosclerosis, this gene was re-sequenced in a large population of otosclerosis patients and controls. Resequencing of the 5' and 3' UTRs, coding regions, and exon-intron boundaries of SERPINF1 was performed in 1604 unrelated otosclerosis patients and 1538 unscreened controls, and in 62 large otosclerosis families. Our study showed no enrichment of rare variants, stratified by type, in SERPINF1 in patients versus controls. Furthermore, the c.392C > A (p.Ala131Asp) variant, previously reported as pathogenic, was identified in three patients and four controls, not replicating its pathogenic nature. We could also not find evidence for a pathogenic role in otosclerosis for 5' UTR variants in the SERPINF1-012 transcript (ENST00000573763), described as the major transcript in human stapes. Furthermore, no rare variants were identified in the otosclerosis families. This study does not support a pathogenic role for variants in SERPINF1 as a cause of otosclerosis. Therefore, the etiology of the disease remains largely unknown and will undoubtedly be the focus of future studies.
MeSH term(s)	3' Untranslated Regions ; 5' Untranslated Regions ; Case-Control Studies ; Eye Proteins/genetics ; Female ; Humans ; Male ; Nerve Growth Factors/genetics ; Otosclerosis/genetics ; Pedigree ; Sequence Analysis, DNA/methods ; Serpins/genetics
Chemical Substances	3' Untranslated Regions ; 5' Untranslated Regions ; Eye Proteins ; Nerve Growth Factors ; Serpins ; pigment epithelium-derived factor
Language	English
Publishing date	2019-04-09
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2044817-X
ISSN	1617-4623 ; 1617-4615
ISSN (online)	1617-4623
ISSN	1617-4615
DOI	10.1007/s00438-019-01558-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1198: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: New environmental reservoir of CPE in hospitals.

Smismans, Annick / Ho, Erwin / Daniels, Davy / Ombelet, Sara / Mellaerts, Bea / Obbels, Dagmar / Valgaeren, Hanne / Goovaerts, Anja / Huybrechts, Eline / Montag, Ilke / Frans, Johan

The Lancet. Infectious diseases

2019 Volume 19, Issue 6, Page(s) 580–581

MeSH term(s)	Aged ; Aged, 80 and over ; Carbapenem-Resistant Enterobacteriaceae/isolation & purification ; Disease Reservoirs/microbiology ; Female ; Hospitals/statistics & numerical data ; Humans ; Infection Control/methods ; Male ; Toilet Facilities/statistics & numerical data ; United States
Language	English
Publishing date	2019-05-20
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	2061641-7
ISSN	1474-4457 ; 1473-3099
ISSN (online)	1474-4457
ISSN	1473-3099
DOI	10.1016/S1473-3099(19)30230-0
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5743: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Insufficient evidence for a role of SERPINF1 in otosclerosis

Molecular genetics and genomics. 2019 Aug., v. 294, no. 4

2019

Abstract	Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with familial otosclerosis. To unravel the contribution of genetic variation in this gene to otosclerosis, this gene was re-sequenced in a large population of otosclerosis patients and controls. Resequencing of the 5′ and 3′ UTRs, coding regions, and exon–intron boundaries of SERPINF1 was performed in 1604 unrelated otosclerosis patients and 1538 unscreened controls, and in 62 large otosclerosis families. Our study showed no enrichment of rare variants, stratified by type, in SERPINF1 in patients versus controls. Furthermore, the c.392C > A (p.Ala131Asp) variant, previously reported as pathogenic, was identified in three patients and four controls, not replicating its pathogenic nature. We could also not find evidence for a pathogenic role in otosclerosis for 5′ UTR variants in the SERPINF1-012 transcript (ENST00000573763), described as the major transcript in human stapes. Furthermore, no rare variants were identified in the otosclerosis families. This study does not support a pathogenic role for variants in SERPINF1 as a cause of otosclerosis. Therefore, the etiology of the disease remains largely unknown and will undoubtedly be the focus of future studies.
Keywords	etiology ; genes ; genetic variation ; genomics ; humans
Language	English
Dates of publication	2019-08
Size	p. 1001-1006.
Publishing place	Springer Berlin Heidelberg
Document type	Article
ISSN	1617-4615
DOI	10.1007/s00438-019-01558-8
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Accuracy and reproducibility of low-dose submillisievert chest CT for the diagnosis of COVID-19

Dangis, Anthony / Gieraerts, Christopher / Bruecker, Yves De / Janssen, Lode / Valgaeren, Hanne / Obbels, Dagmar / Gillis, Marc / Ranst, Marc Van / Frans, Johan / Demeyere, Annick / Symons, Rolf

Radiol Cardiothorac Imaging

Abstract: PURPOSE: To demonstrate the accuracy and reproducibility of low-dose submillisievert chest CT for the diagnosis of COVID-19 infection in emergency room (ER) patients. MATERIALS AND METHODS: This was a HIPAA-compliant, institutional review board-approved ... ...

Abstract	PURPOSE: To demonstrate the accuracy and reproducibility of low-dose submillisievert chest CT for the diagnosis of COVID-19 infection in emergency room (ER) patients. MATERIALS AND METHODS: This was a HIPAA-compliant, institutional review board-approved retrospective study. From March 14(th) to March 24(th) 2020, 192 ER patients with symptoms suggestive of COVID-19 infection were studied with low-dose chest CT and real time polymerase chain reaction (RT-PCR). Image analysis included likelihood of COVID-19 infection and semi-quantitative extent of lung involvement. CT images were analyzed by 2 radiologists blinded to RT-PCR results. Reproducibility was assessed with McNemar test and intra-class correlation coefficient (ICC). Time between CT acquisition and report was measured. RESULTS: When compared to RT-PCR, low-dose submillisievert chest CT demonstrated excellent sensitivity, specificity, positive predictive value, negative predictive value, and accuracy for diagnosis of COVID-19 (86.7%, 93.6%, 91.1%, 90.3%, and 90.2%, respectively), in particular in patients with clinical symptoms for >48h (95.6%, 93.2%, 91.5%, 96.5%, and 94.4%, respectively). In patients with a positive CT, likelihood of disease increased from 43.2% (pre-test probability) to 91.1% or 91.4% (post-test probability), while in patients with a negative CT, likelihood of disease decreased to 9.6% or 3.7% for all patients or those with clinical symptoms for >48h, respectively. The prevalence of alternative diagnoses based on chest CT in patients without COVID-19 infection was 17.6%. Mean effective radiation dose was 0.56±0.25 mSv (SD). Median time between CT acquisition and report was 25 minutes (IQR: 13-49 minutes). Intra- and interreader reproducibility of CT was excellent (all ICC□0.95) without significant bias in Bland-Altman analysis. CONCLUSION: Low-dose submillisievert chest CT allows for rapid, accurate and reproducible assessment of COVID-19 infection in ER patients, in particular in patients with symptoms lasting longer than 48 hours. Chest CT has the additional advantage of offering alternative diagnoses in a significant subset of patients.
Keywords	covid19
Publisher	PMC
Document type	Article ; Online
DOI	10.1148/ryct.2020200196
Database	COVID19

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen, Isabelle / Valgaeren, Hanne / Tomas-Roca, Laura / Sommen, Manou / Altunoglu, Umut / Wesdorp, Mieke / Beyens, Matthias / Fransen, Erik / Nasir, Abdul / Vandeweyer, Geert / Schepers, Anne / Rahmoun, Malika / van Beusekom, Ellen / Huentelman, Matt J / Offeciers, Erwin / Dhooghe, Ingeborg / Huber, Alex / Van de Heyning, Paul / Zanetti, Diego /

De Leenheer, Els M R / Gilissen, Christian / Hoischen, Alexander / Cremers, Cor W / Verbist, Berit / de Brouwer, Arjan P M / Padberg, George W / Pennings, Ronald / Kayserili, Hülya / Kremer, Hannie / Van Camp, Guy / van Bokhoven, Hans

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 21, Issue 5, Page(s) 1199–1208

Abstract: Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.: Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing ... ...

Abstract	Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis. Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls. Results: Exome sequencing in the HCFP family led to the identification of a rare segregating heterozygous frameshift variant p.(Gln425Lysfs38) in MEPE. As the HL phenotype in this family resembled otosclerosis, we performed variant burden and variance components analyses in a large otosclerosis cohort and demonstrated that nonsense and frameshift MEPE variants were significantly enriched in affected subjects (p = 0.0006-0.0060). Conclusion:* MEPE exerts its function in bone homeostasis by two domains, an RGD and an acidic serine aspartate-rich MEPE-associated (ASARM) motif inhibiting respectively bone resorption and mineralization. All variants associated with otosclerosis are predicted to result in nonsense mediated decay or an ASARM-and-RGD-truncated MEPE. The HCFP variant is predicted to produce an ASARM-truncated MEPE with an intact RGD motif. This difference in effect on the protein corresponds with the presumed pathophysiology of both diseases, and provides a plausible molecular explanation for the distinct phenotypic outcome.
MeSH term(s)	Adult ; Bone and Bones/metabolism ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Facial Paralysis/congenital ; Facial Paralysis/etiology ; Facial Paralysis/genetics ; Facial Paralysis/metabolism ; Family ; Female ; Genetic Diseases, X-Linked/genetics ; Genetic Variation/genetics ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Hearing Loss/genetics ; Heterozygote ; Humans ; Male ; Otosclerosis/genetics ; Pedigree ; Phenotype ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Whole Exome Sequencing/methods
Chemical Substances	Extracellular Matrix Proteins ; Glycoproteins ; MEPE protein, human ; Phosphoproteins
Language	English
Publishing date	2018-10-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-018-0300-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5059: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito