Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anne-Martine R. de Heer"'
Autor:
Anne-Martine R. de Heer, Patrick L. M. Huygen, Saumil N. Merchant, Cor W. R. J. Cremers, Janneke A.E. Kammeraad, Johannes R.M. Cruysberg
Publikováno v:
Audiology and Neuro-Otology, 17, 219-27
Audiology and Neuro-Otology, 17, 4, pp. 219-27
Audiology and Neuro-Otology, 17, 4, pp. 219-27
Item does not contain fulltext The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8918290cd051eac856b52e9c1c6037fb
https://doi.org/10.1159/000336212
https://doi.org/10.1159/000336212
Autor:
Patrick L. M. Huygen, Anne-Martine R. de Heer, Henricus P. M. Kunst, Margit Schraders, Cor W. R. J. Cremers, Jaap Oostrik, Rob W.J. Collin, Myrthe Rouwette, Hannie Kremer
Publikováno v:
Audiology and Neurotology. 16:93-105
In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbec074213876a74890cbdeb497d7e92
https://doi.org/10.1159/000313282
https://doi.org/10.1159/000313282
Autor:
Patrick L. M. Huygen, Hannie Kremer, Cor W. R. J. Cremers, Rob W.J. Collin, Anne-Martine R. de Heer
Publikováno v:
Annals of Otology, Rhinology and Laryngology, 118, 4, pp. 313-20
Annals of Otology, Rhinology and Laryngology, 118, 313-20
Annals of Otology, Rhinology and Laryngology, 118, 313-20
Objectives: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P Methods: A 4-generation pedigree was constructed of the Dutch family with the novel L223P POU4F3 mutation. Pure tone audiomet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18fdb1f73f2267e5cf245f06a2766de
https://doi.org/10.1177/000348940911800413
https://doi.org/10.1177/000348940911800413
Autor:
Anne-Martine R, de Heer, Rob W J, Collin, Patrick L M, Huygen, Margit, Schraders, Jaap, Oostrik, Myrthe, Rouwette, Henricus P M, Kunst, Hannie, Kremer, Cor W R J, Cremers
Publikováno v:
Audiologyneuro-otology. 16(2)
In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d670ed413bd9c95c2fa2eea1fc05799d
https://pubmed.ncbi.nlm.nih.gov/21252500
https://pubmed.ncbi.nlm.nih.gov/21252500
Autor:
Robert-Jan Pauw, Anne-Martine R. de Heer, Arjan P.M. de Brouwer, Hannie Kremer, Cor W. R. J. Cremers, Jaap Oostrik, Ronald J.C. Admiraal, Rob W.J. Collin, Tim M. Strom, R.F. Plantinga, Patrick L. M. Huygen
Publikováno v:
European Journal of Human Genetics, 16, 1430-6
European Journal of Human Genetics, 16, 12, pp. 1430-6
European Journal of Human Genetics, 16, 12, pp. 1430-6
Contains fulltext : 69348.pdf (Publisher’s version ) (Closed access) Autosomal dominant hearing loss is highly heterogeneous. Hearing impairment mainly involves the mid-frequencies (500-2000 Hz) in only a low percentage of the cases. In a Dutch fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd18a02e247aba67f414fe445225df2
https://doi.org/10.1038/ejhg.2008.110
https://doi.org/10.1038/ejhg.2008.110
