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Schraders, Margit
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1

De novo and inherited loss-of-function variants of ATP2B2 a..:

DOOFNL Consortium ; Smits, Jeroen J. ; Oostrik, Jaap...
Human Genetics.  138 (2018)  1 - p. 61-72 , 2018
Link: https://doi.org/10.1007/..
 
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2

Grxcr2 is required for stereocilia morphogenesis in the coc..:

Avenarius, Matthew R. ; Jung, Jae-Yun ; Askew, Charles...
PLOS ONE.  13 (2018)  8 - p. e0201713 , 2018
Link: https://doi.org/10.1371/..
 
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3

Heterozygous missense variants of LMX1A lead to nonsyndromi..:

DOOFNL Consortium ; Wesdorp, Mieke ; de Koning Gans, Pia A. M....
Human Genetics.  137 (2018)  5 - p. 389-400 , 2018
Link: https://doi.org/10.1007/..
 
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4

Broadening the phenotype of DFNB28: Mutations in TRIOBP are..:

Wesdorp, Mieke ; van de Kamp, Jiddeke M. ; Hensen, Erik F....
Hearing Research.  347 (2017)  - p. 56-62 , 2017
Link: https://doi.org/10.1016/..
 
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5

The diagnostic yield of whole-exome sequencing targeting a ..:

Zazo Seco, Celia ; Wesdorp, Mieke ; Feenstra, Ilse...
European Journal of Human Genetics.  25 (2016)  3 - p. 308-314 , 2016
Link: https://doi.org/10.1038/..
 
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6

Trends in genetic diagnostics of hereditary hearing loss: P..:

Pennings, Ronald ; Seco, Celia Zazo ; Wesdorp, Mieke...
The Journal of Laryngology & Otology.  130 (2016)  S3 - p. S27-S27 , 2016
Link: https://doi.org/10.1017/..
 
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7

A homozygousFITM2mutation causes a deafness-dystonia syndro..:

Seco, Celia Zazo ; Castells-Nobau, Anna ; Joo, Seol-hee...
Disease Models & Mechanisms.  , 2016
Link: https://doi.org/10.1242/..
 
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8

Genetic Spectrum of Autosomal Recessive Non-Syndromic Heari..:

Shafique, Sobia ; Siddiqi, Saima ; Schraders, Margit...
PLoS ONE.  9 (2014)  6 - p. e100146 , 2014
Link: https://doi.org/10.1371/..
 
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9

A canonical splice site mutation in GIPC3 causes sensorineu..:

Siddiqi, Saima ; Ismail, Muhammad ; Oostrik, Jaap...
Journal of Human Genetics.  59 (2014)  12 - p. 683-686 , 2014
Link: https://doi.org/10.1038/..
 
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10

Novel mutation in AAA domain of BCS1L causing Bjornstad syn..:

Siddiqi, Saima ; Siddiq, Saadat ; Mansoor, Atika...
Journal of Human Genetics.  58 (2013)  12 - p. 819-821 , 2013
Link: https://doi.org/10.1038/..
 
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11

Mutations in ISPD cause Walker-Warburg syndrome and defecti..:

Roscioli, Tony ; Kamsteeg, Erik-Jan ; Buysse, Karen...
Nature Genetics.  44 (2012)  5 - p. 581-585 , 2012
Link: https://doi.org/10.1038/..
 
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12

Gipc3 mutations associated with audiogenic seizures and sen..:

Charizopoulou, Nikoletta ; Lelli, Andrea ; Schraders, Margit...
Nature Communications.  2 (2011)  1 - p. , 2011
Link: https://doi.org/10.1038/..
 
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13

Audioprofile-Directed Successful Mutation Analysis in a DFN..:

de Heer, Anne-Martine R. ; Schraders, Margit ; Jaap, Oostrik...
Annals of Otology, Rhinology & Laryngology.  120 (2011)  4 - p. 243-248 , 2011
Link: https://doi.org/10.1177/..
 
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14

Genotype–Phenotype Correlation in DFNB8/10 Families with TM..:

Weegerink, Nicole J. D. ; Schraders, Margit ; Oostrik, Jaap...
Journal of the Association for Research in Otolaryngology.  12 (2011)  6 - p. 753-766 , 2011
Link: https://doi.org/10.1007/..
 
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15

SDH5, a Gene Required for Flavination of Succinate Dehydrog..:

Hao, Huai-Xiang ; Khalimonchuk, Oleh ; Schraders, Margit...
Science.  325 (2009)  5944 - p. 1139-1142 , 2009
Link: https://doi.org/10.1126/..
 
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