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Huygen, Patrick L.M.
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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