B B A de Vries - JoVE Visualize

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European Journal of Medical Genetics|July 11, 2006

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalitiesI Feenstra, J Fang, D A Koolen, et al.

Clinical Genetics|September 19, 2008

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndromeR Day, B Beckett, D Donnai, et al.

Clinical Genetics|February 6, 2004

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner, K M Lower, S M White, 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.

Human Genetics|April 26, 2007

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesL E L M Vissers, P Stankiewicz, S A Yatsenko, et al.

Journal of Medical Genetics|December 14, 2004

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)D A Koolen, W M Nillesen, M H A Versteeg, 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.

Molecular Psychiatry|February 12, 2026

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries SyndromeA H A Verboven, S Puvogel, B L Latour, et al.

Annals of Neurology|January 27, 2006

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutationK R J Vanmolkot, H Stroink, J B Koenderink, 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.

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Showing results (11-20 of 31) with videos related to

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Pageof 4

European Journal of Medical Genetics|July 11, 2006

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalitiesI Feenstra, J Fang, D A Koolen, et al.

Clinical Genetics|September 19, 2008

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndromeR Day, B Beckett, D Donnai, et al.

Clinical Genetics|February 6, 2004

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner, K M Lower, S M White, 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.

Human Genetics|April 26, 2007

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesL E L M Vissers, P Stankiewicz, S A Yatsenko, et al.

Journal of Medical Genetics|December 14, 2004

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)D A Koolen, W M Nillesen, M H A Versteeg, 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.

Molecular Psychiatry|February 12, 2026

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries SyndromeA H A Verboven, S Puvogel, B L Latour, et al.

Annals of Neurology|January 27, 2006

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutationK R J Vanmolkot, H Stroink, J B Koenderink, 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.

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