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T Kleefstra

Showing results (21-30 of 46) with videos related to

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Clinical Genetics|April 6, 2013
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndromeH E Feberwee, I Feenstra, S Oberoi, et al.
Human Genetics|August 13, 2015
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband SyndromesNuria C Bramswig, C W Ockeloen, J C Czeschik, et al.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, 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.
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.
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|March 4, 2016
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndromeB Schönewolf-Greulich, M-I Tejada, K Stephens, 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.
Journal of Medical Genetics|May 4, 2004
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardationT Kleefstra, H G Yntema, A R Oudakker, 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 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Clinical Genetics|April 6, 2013
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndromeH E Feberwee, I Feenstra, S Oberoi, et al.
Human Genetics|August 13, 2015
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband SyndromesNuria C Bramswig, C W Ockeloen, J C Czeschik, et al.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, 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.
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.
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|March 4, 2016
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndromeB Schönewolf-Greulich, M-I Tejada, K Stephens, 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.
Journal of Medical Genetics|May 4, 2004
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardationT Kleefstra, H G Yntema, A R Oudakker, 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 5