Works matching AU Huygen, Patrick

Results: 64

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Published in:

2011

By:

Weegerink, Nicole;
Schraders, Margit;
Oostrik, Jaap;
Huygen, Patrick;
Strom, Tim;
Granneman, Susanne;
Pennings, Ronald;
Venselaar, Hanka;
Hoefsloot, Lies;
Elting, Mariet;
Cremers, Cor;
Admiraal, Ronald;
Kremer, Hannie;
Kunst, Henricus;
Weegerink, Nicole J D;
Huygen, Patrick L M;
Strom, Tim M;
Pennings, Ronald J E;
Hoefsloot, Lies H;
Cremers, Cor W R J

Publication type:

journal article

TBC1 D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss.

Published in:

Human Mutation, 2014, v. 35, n. 7, p. 819, doi. 10.1002/humu.22557

By:

Azaiez, Hela;
Booth, Kevin T.;
Bu, Fengxiao;
Huygen, Patrick;
Shibata, Seiji B.;
Shearer, A. Eliot;
Kolbe, Diana;
Meyer, Nicole;
Black‐Ziegelbein, E. Ann;
Smith, Richard J.H.

Publication type:

Article

Audio Gene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 539, doi. 10.1002/humu.22268

By:

Taylor, Kyle R.;
DeLuca, Adam P.;
Shearer, A. Eliot;
Hildebrand, Michael S.;
Black‐Ziegelbein, E. Ann;
Anand, V. Nikhil;
Sloan, Christina M.;
Eppsteiner, Robert W.;
Scheetz, Todd E.;
Huygen, Patrick L. M.;
Smith, Richard J. H.;
Braun, Terry A.;
Casavant, Thomas L.

Publication type:

Article

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 545, doi. 10.1002/humu.20693

By:

Collin, Rob W.J.;
Chellappa, Ramesh;
Pauw, Robert-Jan;
Vriend, Gert;
Oostrik, Jaap;
van Drunen, Wendy;
Huygen, Patrick L.;
Admiraal, Ronald;
Hoefsloot, Lies H.;
Cremers, Frans P.M.;
Xiang, Mengqing;
Cremers, Cor W.R.J.;
Kremer, Hannie

Publication type:

Article

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9259

By:

Pennings, Ronald J.E.;
te Brinke, Heleen;
Weston, Michael D.;
Claassen, Annemarie;
Orten, Dana J.;
Weekamp, Henriëtte;
van Aarem, Annelies;
Huygen, Patrick L.M.;
Deutman, August F.;
Hoefsloot, Lies H.;
Cremers, Frans P.M.;
Cremers, Cor W.R.J.;
Kimberling, William J.;
Kremer, Hannie

Publication type:

Article

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 15, doi. 10.1002/humu.10096

By:

Van Camp, Guy;
Coucke, Paul J.;
Akita, Jiro;
Fransen, Erik;
Abe, Satoko;
De Leenheer, Els M.R.;
Huygen, Patrick L.M.;
Cremers, Cor W.R.J.;
Usami, Shin-Ichi

Publication type:

Article

Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome.

Published in:

Audiology & Neurotology, 2012, v. 17, n. 4, p. 219, doi. 10.1159/000336212

By:

de Heer, Anne-Martine R.;
Merchant, Saumil N.;
Kammeraad, Janneke A.E.;
Cruysberg, Johannes R.M.;
Huygen, Patrick L.M.;
Cremers, Cor W.R.J.

Publication type:

Article

Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

Published in:

2012

By:

de Heer, Anne-Martine R;
Merchant, Saumil N;
Kammeraad, Janneke A E;
Cruysberg, Johannes R M;
Huygen, Patrick L M;
Cremers, Cor W R J

Publication type:

Journal Article

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1.

Published in:

Audiology & Neurotology, 2011, v. 16, n. 2, p. 93, doi. 10.1159/000313282

By:

De Heer, Anne-Martine R.;
Collin, Rob W. J.;
Huygen, Patrick L.M.;
Schraders, Margit;
Oostrik, Jaap;
Rouwette, Myrthe;
Kunst, Henricus P. M.;
Kremer, Hannie;
Cremers, Cor W. R. J.

Publication type:

Article

Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3.

Published in:

Audiology & Neurotology, 2009, v. 14, n. 5, p. 303, doi. 10.1159/000212109

By:

van Drunen, F. J. Wendy;
Pauw, Robert J.;
Collin, Rob W. J.;
Kremer, Hannie;
Huygen, Patrick L. M.;
Cremers, Cor W. R. J.

Publication type:

Article

Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W.

Published in:

Audiology & Neurotology, 2007, v. 12, n. 2, p. 77, doi. 10.1159/000097794

By:

Pauw, Robert J.;
Collin, Rob W. J.;
Huygen, Patrick L. M.;
Hoefsloot, Lies H.;
Kremer, Hannie;
Cremers, Cor W. R. J.

Publication type:

Article

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Published in:

2006

By:

Santos, Regie Lyn P.;
Häfner, Franziska M.;
Huygen, Patrick L. M.;
Linder, Thomas E.;
Schinzel, Albert A.;
Spillmann, Thomas;
Leal, Suzanne M.;
Häfner, Franziska M

Publication type:

journal article

Ophthalmologic findings in Usher syndrome type 2A.

Published in:

Ophthalmic Genetics, 1995, v. 16, n. 4, p. 151, doi. 10.3109/13816819509057856

By:

Aarem, Annelies Van;
Wagenaar, Mariette;
Pinckers, Alfred J. L. G.;
Huygen, Patrick L. M.;
Bleeker-wagemakers, Elisabeth M.;
Kimberling, Bill J.;
Cremers, W. R. J.

Publication type:

Article

Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.

Published in:

2001

By:

van den Elzen, Annet P. M.;
Semmekrot, Ben A.;
Bongers, Ernie M. H. F.;
Huygen, Patrick L. M.;
Marres, Henri A. M.;
van den Elzen, A P;
Semmekrot, B A;
Bongers, E M;
Huygen, P L;
Marres, H A

Publication type:

journal article

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110

By:

Collin, Rob W. J.;
de Heer, Anne-Martine R.;
Oostrik, Jaap;
Pauw, Robert-Jan;
Plantinga, Rutger F.;
Huygen, Patrick L.;
Admiraal, Ronald;
de Brouwer, Arjan P. M.;
Strom, Tim M.;
Cremers, Cor W. R. J.;
Kremer, Hannie

Publication type:

Article

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446

By:

Bongers, Ernie M. H. F.;
Huysmans, Frans T.;
Levtchenko, Elena;
de Rooy, Jacky W.;
Blickman, Johan G.;
Admiraal, Ronald J. C.;
Huygen, Patrick L. M.;
Cruysberg, Johannes R. M.;
Toolens, Pauline A. M. P.;
Prins, Judith B.;
Krabbe, Paul F. M.;
Borm, George F.;
Schoots, Jeroen;
van Bokhoven, Hans;
van Remortele, Angela M. F.;
Hoefsloot, Lies H.;
van Kampen, Albert;
Knoers, Nine V. A. M.

Publication type:

Article

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247

By:

Verhoeven, Kristien;
Ensink, Robbert JH;
Tiranti, Valeria;
Huygen, Patrick LM;
Johnson, David F;
Schatteman, Isabelle;
Van Laer, Lut;
Verstreken, Margriet;
Van de Heyning, Paul;
Fischel-Ghodsian, Nathan;
Zeviani, Massimo;
Cremers, Cor WRJ;
Willems, Patrick J;
Van Camp, Guy

Publication type:

Article

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3

By:

Luijendijk, Mirjam W. J.;
van Wijk, Erwin;
Bischoff, Anne M. L. C.;
Krieger, Elmar;
Huygen, Patrick L. M.;
Pennings, Ronald J. E.;
Brunner, Han G.;
Cremers, Cor W. R. J.;
Cremers, Frans P. M.;
Kremer, Hannie

Publication type:

Article

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

Published in:

Human Genetics, 2003, v. 112, n. 2, p. 156, doi. 10.1007/s00439-002-0833-0

By:

de Brouwer, Arjan P.;
Pennings, Ronald J.;
Roeters, Marjolijn;
Van Hauwe, Peter;
Astuto, Lisa M.;
Hoefsloot, Lies H.;
Huygen, Patrick L.;
van den Helm, Bellinda;
Deutman, August F.;
M. Bork, Julie;
Kimberling, William J.;
Cremers, Frans P.;
Cremers, Cor W.;
Kremer, Hannie

Publication type:

Article

High prevalence of symptoms of Meniere's disease in three families with a mutation on the COCH gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1425, doi. 10.1093/hmg/8.8.1425

By:

Fransen, Erik;
Verstreken, Margriet;
Verhagen, Wim I. M.;
Wuyts, Floris L.;
Huygen, Patrick L. M.;
D'Haese, Patrick;
Robertson, Nahid G.;
Morton, Cynthia C.;
McGuirt, Wyman T.;
Smith, Richard J. H.;
Declau, Frank;
Heyning, Paul H. Van de;
Camp, Guy Van

Publication type:

Article

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361

By:

de Kok, Yvette J. M.;
Bom, Steven J. H.;
Brunt, Tibor M.;
Kemperman, Martijn H.;
van Beusekom, Ellen;
van der Velde-Visser, Saskia D.;
Robertson, Nahid G.;
Morton, Cynthia C.;
Huygen, Patrick L. M.;
Verhagen, Wim I. M.;
Brunner, Han G.;
Cremers, Cor W. R. J.;
Cremers, Frans P. M.

Publication type:

Article

Central nervous system Whipple's disease.

Published in:

1997

By:

Verhagen, Wim I. M.;
Huygen, Patrick L. M.;
Dalman, Johanna E.;
Verhagen, W I;
Huygen, P L;
Dalman, J E

Publication type:

commentary

Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation.

Published in:

Laryngoscope, 2000, v. 110, n. 3, p. 457, doi. 10.1097/00005537-200003000-00025

By:

Admiraal, Ronald J. C.;
Brunner, Han G.;
Dijkstra, Tjard L.;
Huygen, Patrick L. M.;
Cremers, Cor W. R. J.

Publication type:

Article

Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9.

Published in:

Laryngoscope, 1999, v. 109, n. 9, p. 1525, doi. 10.1097/00005537-199909000-00031

By:

Bom, Steven J.H.;
Kemperman, Martijn H.;
De Kok, Yvonne J.M.;
Huygen, Patrick L.M.;
Verhagen, Wim I.M.;
Cremers, Frans P.M.;
Cremers, Cor W.R.J.

Publication type:

Article

Nonsyndromic Autosomal Dominant Progressive Sensorineural Hearing Loss: Audiologic Analysis of a Pedigree Linked to DFNA2.

Published in:

Laryngoscope, 1998, v. 108, n. 1, p. 74, doi. 10.1097/00005537-199801000-00014

By:

Kunst, Henricus;
Marres, Henri;
Huygen, Patrick;
Ensink, Robert;
Van Camp, Guy;
Van Hauwe, Peter;
Coucke, Paul;
Willems, Patrick;
Cremers, Cor

Publication type:

Article

Isolated congenital stapes ankylosis: Surgical results in 32 ears and a review of the literature.

Published in:

Laryngoscope, 1990, v. 100, n. 12, p. 1331, doi. 10.1288/00005537-199012000-00017

By:

Teunissen, Bert;
Cremers, W. R. J.;
Huygen, Patrick L. M.;
Pouwels, Ton P. B. M.

Publication type:

Article

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63256-5

By:

Morín, Matias;
Borreguero, Lucía;
Booth, Kevin T;
Lachgar, María;
Huygen, Patrick;
Villamar, Manuela;
Mayo, Fernando;
Barrio, Luis Carlos;
Santos Serrão de Castro, Luciana;
Morales, Carmelo;
del Castillo, Ignacio;
Arellano, Beatriz;
Tellería, Dolores;
Smith, Richard J. H.;
Azaiez, Hela;
Moreno Pelayo, M. A.

Publication type:

Article

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 220, doi. 10.3390/biom12020220

By:

Robijn, Sybren M. M.;
Smits, Jeroen J.;
Sezer, Kadriye;
Huygen, Patrick L. M.;
Beynon, Andy J.;
van Wijk, Erwin;
Kremer, Hannie;
de Vrieze, Erik;
Lanting, Cornelis P.;
Pennings, Ronald J. E.

Publication type:

Article

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 159, doi. 10.1093/hmg/ddm292

By:

Van Laer, Lut;
Van Eyken, Els;
Fransen, Erik;
Huyghe, Jeroen R.;
Topsakal, Vedat;
Hendrickx, Jan-Jaap;
Hannula, Samuli;
Mäki-Torkko, Elina;
Jensen, Mona;
Demeester, Kelly;
Baur, Manuela;
Bonaconsa, Amanda;
Mazzoli, Manuela;
Espeso, Angeles;
Verbruggen, Katia;
Huyghe, Joke;
Huygen, Patrick;
Kunst, Sylvia;
Manninen, Minna;
Konings, Annelies

Publication type:

Article

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1071, doi. 10.1093/hmg/ddl022

By:

Robertson, Nahid G.;
Cremers, Cor W.R.J.;
Huygen, Patrick L.M.;
Ikezono, Tetsuo;
Krastins, Bryan;
Kremer, Hannie;
Kuo, Sharon F.;
Liberman, M. Charles;
Merchant, Saumil N.;
Miller, Constance E.;
Nadol, Joseph B.;
Sarracino, David A.;
Verhagen, Wim I.M.;
Morton, Cynthia C.

Publication type:

Article

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study.

Published in:

JARO - Journal of the Association for Research in Otolaryngology, 2008, v. 9, n. 3, p. 264, doi. 10.1007/s10162-008-0123-1

By:

Fransen, Erik;
Topsakal, Vedat;
Hendrickx, Jan-Jaap;
Laer, Lut;
Huyghe, Jeroen;
Eyken, Els;
Lemkens, Nele;
Hannula, Samuli;
Mäki-Torkko, Elina;
Jensen, Mona;
Demeester, Kelly;
Tropitzsch, Anke;
Bonaconsa, Amanda;
Mazzoli, Manuela;
Espeso, Angeles;
Verbruggen, Katia;
Huyghe, Joke;
Huygen, Patrick;
Kunst, Sylvia;
Manninen, Minna

Publication type:

Article

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 ( TECTA) Family.

Published in:

JARO - Journal of the Association for Research in Otolaryngology, 2007, v. 8, n. 1, p. 1, doi. 10.1007/s10162-006-0060-9

By:

Plantinga, Rutger;
Cremers, Cor;
Huygen, Patrick;
Kunst, Henricus;
Bosman, Arjan

Publication type:

Article

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation.

Published in:

JARO - Journal of the Association for Research in Otolaryngology, 2006, v. 7, n. 2, p. 173, doi. 10.1007/s10162-006-0033-z

By:

Plantinga, Rutger;
Brouwer, Arjan;
Huygen, Patrick;
Kunst, Henricus;
Kremer, Hannie;
Cremers, Cor

Publication type:

Article

Myotonic dystrophy mimicking INO.

Published in:

Neuro-Ophthalmology, 1998, v. 20, n. 2, p. 101, doi. 10.1076/noph.20.2.101.8933

By:

Verhagen, Wim I.M.;
Huygen, Patrick L.M.

Publication type:

Article

Congenital monocular adduction palsy with synergistic divergence diagnosed in a young infant.

Published in:

Neuro-Ophthalmology, 1990, v. 10, n. 5, p. 253, doi. 10.3109/01658109008997292

By:

Cruysberg, Johan R. M.;
Huygen, Patrick L. M.

Publication type:

Article

A New Autosomal Dominant Syndrome of Idiopathic Progressive Vestibulo-cochlear Dysfunction with Middle-age Onset.

Published in:

Acta Oto-Laryngologica, 1992, v. 112, n. 2, p. 899, doi. 10.3109/00016489209137489

By:

Verhagen, Wim I. M.;
Huygen, Patrick L. M.;
Bles, Willem

Publication type:

Article

Virus-induced Central Positional Nystagmus in Mice.

Published in:

Acta Oto-Laryngologica, 1985, v. 100, n. 3/4, p. 172, doi. 10.3109/00016488509104779

By:

Koolen, Mark J. M.;
Huygen, Patrick L. M.;
Calafat, Jero;
Van Der Zeijst, Bernard A. M.

Publication type:

Article

Hereditary Familial Vestibular Degenerative Diseases.

Published in:

Annals of the New York Academy of Sciences, 2001, v. 942, n. 1, p. 493, doi. 10.1111/j.1749-6632.2001.tb03779.x

By:

SUN, JOHN C.;
ALPHEN, ADRIAAN M.;
WAGENAAR, MARIETTE;
HUYGEN, PATRICK;
HOOGENRAAD, CASPER C.;
HASSON, TAMA;
KOEKKOEK, SEBASTIAAN K. E.;
BOHNE, BARBARA A.;
ZEEUW, CHRIS I.

Publication type:

Article

Phenotype of the first otosclerosis family linked to OTSC10.

Published in:

Laryngoscope, 2011, v. 121, n. 4, p. 838, doi. 10.1002/lary.21463

By:

Weegerink, Nicole J. D.;
Schrauwen, Isabelle;
Huygen, Patrick L. M.;
Pennings, Ronald J. E.;
Cremers, Cor W. R. J.;
Van Camp, Guy;
Kunst, Henricus P. M.

Publication type:

Article

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

Published in:

Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159

By:

Hildebrand, Michael S.;
Gandolfo, Luke;
Shearer, A. Eliot;
Webster, Jennifer A.;
Jensen, Maren;
Kimberling, William J.;
Stephan, Dietrich;
Huygen, Patrick L. M.;
Smith, Richard J. H.;
Bahlo, Melanie

Publication type:

Article

A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Published in:

Laryngoscope, 2009, v. 119, n. 11, p. 2211, doi. 10.1002/lary.20664

By:

Hildebrand, Michael S.;
DeLuca, Adam P.;
Taylor, Kyle R.;
Hoskinson, David P.;
Hur, In Ae;
Tack, Dylan;
McMordie, Sarah J.;
Huygen, Patrick L. M.;
Casavant, Thomas L.;
Smith, Richard J. H.

Publication type:

Article

Diagnostic value of velocity-step responses.

Published in:

1985

By:

Huygen, Patrick L.M.;
Nicolasen, Martien G.M.;
Huygen, P L;
Nicolasen, M G

Publication type:

journal article

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.

Published in:

International Journal of Audiology, 2004, v. 43, n. 9, p. 523, doi. 10.1080/14992020400050067

By:

Kemperman, Mathyus H.;
Koch, Sacha M. P.;
Kumar, Shrawan;
Huygen, Patrick L. M.;
Joosten, Frank B. M.;
Cremers, Cor W. R. J.

Publication type:

Article

AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.

Published in:

Human Genetics, 2022, v. 141, n. 3/4, p. 877, doi. 10.1007/s00439-021-02424-7

By:

Thorpe, Ryan K.;
Walls, W. Daniel;
Corrigan, Rae;
Schaefer, Amanda;
Wang, Kai;
Huygen, Patrick;
Casavant, Thomas L.;
Smith, Richard J. H.

Publication type:

Article

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness.

Published in:

Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 975, doi. 10.1177/0194599812454271

By:

Eppsteiner, Robert W.;
Shearer, A. Eliot;
Hildebrand, Michael S.;
Taylor, Kyle R.;
DeLuca, Adam P.;
Scherer, Steve;
Huygen, Patrick;
Scheetz, Todd E.;
Braun, Terry A.;
Casavant, Thomas L.;
Smith, Richard J. H.

Publication type:

Article

Audioprofile Surfaces.

Published in:

Annals of Otology, Rhinology & Laryngology, 2016, v. 125, n. 5, p. 361, doi. 10.1177/0003489415614863

By:

Taylor, Kyle R.;
Booth, Kevin T.;
Azaiez, Hela;
Sloan, Christina M.;
Kolbe, Diana L.;
Glanz, Emily N.;
Shearer, A. Eliot;
DeLuca, Adam P.;
Anand, V. Nikhil;
Hildebrand, Michael S.;
Simpson, Allen C.;
Eppsteiner, Robert W.;
Scheetz, Todd E.;
Braun, Terry A.;
Huygen, Patrick L. M.;
Smith, Richard J. H.;
Casavant, Thomas L.

Publication type:

Article

Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy.

Published in:

Annals of Otology, Rhinology & Laryngology, 2014, v. 123, n. 12, p. 859, doi. 10.1177/0003489414539130

By:

Oonk, Anne M.M.;
Ekker, Merel S.;
Huygen, Patrick L.M.;
Kunst, Henricus P.M.;
Kremer, Hannie;
Schelhaas, Jurgen J.;
Pennings, Ronald J.E.

Publication type:

Article

Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.

Published in:

2011

By:

Pauw, Robert J.;
Huygen, Patrick L. M.;
Colditz, Gordon M.;
Cremers, Cor W. R. J.

Publication type:

Journal Article

Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation.

Published in:

Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 6, p. 414, doi. 10.1177/000348941112000612

By:

Pauw, Robert J.;
Huygen, Patrick L. M.;
Colditz, Gordon M.;
Cremers, Cor W. R. J.

Publication type:

Article

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family.

Published in:

Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 4, p. 243, doi. 10.1177/000348941112000405

By:

de Heer, Anne-Martine R.;
Schraders, Margit;
Oostrik, Jaap;
Hoefsloot, Lies;
Huygen, Patrick L. M.;
Cremers, Cor W. R. J.

Publication type:

Article