Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.
Published in Journal of the Association for Research in Otolaryngology (01.12.2011)
Published in Journal of the Association for Research in Otolaryngology (01.12.2011)
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Phenotype of the first otosclerosis family linked to OTSC10
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
Published in The Laryngoscope (01.04.2011)
Published in The Laryngoscope (01.04.2011)
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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype
Smits, Jeroen J, van Beelen, Eline, Weegerink, Nicole J D, Oostrik, Jaap, Huygen, Patrick L M, Beynon, Andy J, Lanting, Cornelis P, Kunst, Henricus P M, Schraders, Margit, Kremer, Hannie, de Vrieze, Erik, Pennings, Ronald J E
Published in Otology & neurotology (01.04.2021)
Published in Otology & neurotology (01.04.2021)
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