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Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'Oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale|December 16, 2023
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre studyM L A Fehrmann, W J Huinck, M E G Thijssen, et al.Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.Pageof 3