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European Journal of Medical Genetics|November 23, 2007
Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangementsA P A Stegmann, L M H Jonker, J J M EngelenAmerican Journal of Medical Genetics. Part A|October 18, 2008
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformationM A M van Steensel, M Vreeburg, J Engelen, et al.Clinical Genetics|April 13, 2013
Cutaneous clues for diagnosing X-chromosomal disordersM Vreeburg, S C E H Sallevelt, A P A Stegmann, et al.European Journal of Medical Genetics|December 11, 2012
Adducted thumbs: a clinical clue to genetic diagnosisJ M A Verhagen, C T R M Schrander-Stumpel, M M J Blezer, et al.Clinical Genetics|December 19, 2017
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptomsZ Powis, I Petrik, J S Cohen, et al.Journal of Medical Genetics|November 25, 2011
Defective NDUFA9 as a novel cause of neonatally fatal complex I diseaseB J C van den Bosch, M Gerards, W Sluiter, et al.European Journal of Medical Genetics|August 16, 2011
Congenital hydrocephalus in clinical practice: a genetic diagnostic approachJ M A Verhagen, C T R M Schrander-Stumpel, I P C Krapels, et al.Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.Pageof 1