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Schraders, Margit
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Online (45)
Mediatypes
Articles (Online) (21)
OpenAccess-fulltext (24)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
1-15