Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kim P. van der Donk"'
Autor:
Yurii S. Aulchenko, Kim P. van der Donk, C.W.R.J. Cremers, Martijn H. Kemperman, Patrick L.M. Huygen, Ilse J. de Wijs, H. Kremer, Ronald J.C. Admiraal, L. H. Hoefsloot, Regie Lyn P. Santos
Publikováno v:
International Journal of Pediatric Otorhinolaryngology, 69, 2, pp. 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74
Contains fulltext : 47759.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairmen
Autor:
Daniel Ward, Kim P. van der Donk, Joop Theelen, Ermanno A.J. Bosgoed, C. Mattocks, Nicholas C.P. Cross, Bruno Pot, Marjolijn J L Ligtenberg, Gert Matthijs, Hans Scheffer, Gemma Watkins, Tom Janssens
Publikováno v:
Clinical Chemistry, 56, 4, pp. 593-602
Clinical Chemistry, 56, 593-602
Clinical Chemistry, 56, 593-602
Background: Indirect alternatives to sequencing as a method for mutation scanning are of interest to diagnostic laboratories because they have the potential for considerable savings in both time and costs. Ideally, such methods should be simple, rapi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65801bc26a43b8385e7f1a5c42160fcb
https://hdl.handle.net/2066/87980
https://hdl.handle.net/2066/87980
Autor:
Marjolijn C.J. Jongmans, Kim P. van der Donk, Lies H. Hoefsloot, Ingrid M.B.H. van de Laar, Conny M.A. van Ravenswaaij, Han G. Brunner, Ian Walpole, Yvonne M.C. Hendriks, Ronald J.C. Admiraal, Joke B. G. M. Verheij, Alex Magee
Publikováno v:
American Journal of Medical Genetics Part A, 146A(1), 43-50. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 146A, 43-50
American Journal of Medical Genetics. Part A, 146A, 1, pp. 43-50
American Journal of Medical Genetics. Part A, 146A(1), 43-50. Wiley
American Journal of Medical Genetics. Part A, 146A, 43-50
American Journal of Medical Genetics. Part A, 146A, 1, pp. 43-50
American Journal of Medical Genetics. Part A, 146A(1), 43-50. Wiley
Contains fulltext : 70271.pdf (Publisher’s version ) (Closed access) CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2929584bedd9fd34c667a73c57ff5cee
https://pure.eur.nl/en/publications/edcfbb71-c8ae-4511-a6fe-df3b04b1b653
https://pure.eur.nl/en/publications/edcfbb71-c8ae-4511-a6fe-df3b04b1b653