Showing results (11-20 of 26) with videos related to
Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|November 30, 2017
Points to consider for laboratories reporting results from diagnostic genomic sequencingD F Vears, K Sénécal, A J Clarke, et al.Human Reproduction (Oxford, England)|May 18, 2011
Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriersM A Spath, T B Feuth, E G Allen, et al.Clinical Genetics|April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.Clinical Genetics|September 10, 2004
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)T Kleefstra, C E Franken, Y H J M Arens, et al.Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.Clinical Genetics|April 21, 2018
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophyM Wesdorp, V Schreur, A J Beynon, et al.Journal of Medical Genetics|April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra, M Smidt, M J G Banning, et al.Pageof 3