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The Journal of Clinical Endocrinology and Metabolism|May 11, 2006
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genesNicole Pfarr, Guntram Borck, Andrew Turk, et al.European Journal of Medical Genetics|September 24, 2005
Molecular karyotyping in human constitutional cytogeneticsDamien Sanlaville, Jean-Michel Lapierre, Catherine Turleau, et al.Human Mutation|June 27, 2006
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL GeneGuntram Borck, Mohamed Zarhrate, Céline Cluzeau, et al.American Journal of Medical Genetics. Part A|September 4, 2015
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingRüstem Yilmaz, Ana Beleza-Meireles, Susan Price, et al.American Journal of Medical Genetics. Part A|December 14, 2007
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardationCaroline Schluth, Roselyne Gesny, Guntram Borck, et al.European Journal of Medical Genetics|September 20, 2012
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephalyNaseebullah Kakar, Ingrid Goebel, Shakeela Daud, et al.Audiology & Neuro-Otology|May 3, 2013
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantationAlexander E Volk, Ruth Lang-Roth, Goekhan Yigit, et al.Cephalalgia : an International Journal of Headache|January 15, 2016
Early-onset familial hemiplegic migraine due to a novel SCN1A mutationChunxiang Fan, Stefan Wolking, Frank Lehmann-Horn, et al.Orphanet Journal of Rare Diseases|June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaKatja Stange, Julie Désir, Naseebullah Kakar, et al.American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.Pageof 9