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Huygen, Patrick L.M.
~ 200
results:
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Format
Online
Mediatypes
Articles (Online)
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1
Genotype-Phenotype Correlations of Pathogenic COCH Variants..:
Robijn, Sybren M. M.
;
Smits, Jeroen J.
;
Sezer, Kadriye
...
Biomolecules. 12 (2022) 2 - p. 220 , 2022
Link:
https://doi.org/10.3390/..
?
2
Splice-altering variant in COL11A1 as a cause of nonsyndrom..:
Booth, Kevin T.
;
Askew, James W.
;
Talebizadeh, Zohreh
...
Genetics in Medicine. 21 (2019) 4 - p. 948-954 , 2019
Link:
https://doi.org/10.1038/..
?
3
A combination of two truncating mutations in USH2A causes m..:
Hartel, Bas P.
;
Löfgren, Maria
;
Huygen, Patrick L.M.
...
Hearing Research. 339 (2016) - p. 60-68 , 2016
Link:
https://doi.org/10.1016/..
?
4
HOMER2, a Stereociliary Scaffolding Protein, Is Essential f..:
Azaiez, Hela
;
Decker, Amanda R.
;
Booth, Kevin T.
...
PLOS Genetics. 11 (2015) 3 - p. e1005137 , 2015
Link:
https://doi.org/10.1371/..
?
5
Audioprofile Surfaces: The 21st Century Audiogram:
Taylor, Kyle R.
;
Booth, Kevin T.
;
Azaiez, Hela
...
Annals of Otology, Rhinology & Laryngology. 125 (2015) 5 - p. 361-368 , 2015
Link:
https://doi.org/10.1177/..
?
6
Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal..:
Oonk, Anne M.M.
;
Ekker, Merel S.
;
Huygen, Patrick L.M.
...
Annals of Otology, Rhinology & Laryngology. 123 (2014) 12 - p. 859-865 , 2014
Link:
https://doi.org/10.1177/..
?
7
Phenotype Analysis of an Australian DFNA9 Family with the I..:
Pauw, Robert J.
;
Huygen, Patrick L. M.
;
Colditz, Gordon M.
.
Annals of Otology, Rhinology & Laryngology. 120 (2011) 6 - p. 414-421 , 2011
Link:
https://doi.org/10.1177/..
?
8
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/..
?
9
Phenotype of the first otosclerosis family linked to OTSC10:
Weegerink, Nicole J.D.
;
Schrauwen, Isabelle
;
Huygen, Patrick L.M.
...
The Laryngoscope. 121 (2011) 4 - p. 838-845 , 2011
Link:
https://doi.org/10.1002/..
?
10
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/..
?
11
Phenotypes of Two Dutch DFNA3 Families with Mutations in GJ..:
Weegerink, Nicole J. D.
;
Pennings, Ronald J. E.
;
Huygen, Patrick L. M.
...
Annals of Otology, Rhinology & Laryngology. 120 (2011) 3 - p. 191-197 , 2011
Link:
https://doi.org/10.1177/..
?
12
Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Lo..:
Hildebrand, Michael S.
;
Kahrizi, Kimia
;
Bromhead, Catherine J.
...
Annals of Otology, Rhinology & Laryngology. 119 (2010) 12 - p. 830-835 , 2010
Link:
https://doi.org/10.1177/..
?
13
A novel mutation in COCH—implications for genotype‐phenotyp..:
Hildebrand, Michael S.
;
Gandolfo, Luke
;
Shearer, A. Eliot
...
The Laryngoscope. 120 (2010) 12 - p. 2489-2493 , 2010
Link:
https://doi.org/10.1002/..
?
14
A Contemporary Review of AudioGene audioprofiling: A machin..:
Hildebrand, Michael S.
;
DeLuca, Adam P.
;
Taylor, Kyle R.
...
The Laryngoscope. 119 (2009) 11 - p. 2211-2215 , 2009
Link:
https://doi.org/10.1002/..
?
15
Audiometric and Vestibular Features in a Second Dutch DFNA2..:
de Heer, Anne-Martine R.
;
Huygen, Patrick L. M.
;
Collin, Rob W. J.
...
Annals of Otology, Rhinology & Laryngology. 118 (2009) 5 - p. 382-390 , 2009
Link:
https://doi.org/10.1177/..
1-15