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American Journal of Medical Genetics. Part A|October 18, 2011
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disabilityGertrud Strobl-Wildemann, Vera M Kalscheuer, Hao Hu, et al.Genome Research|September 6, 2002
Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomesFrank Grützner, Hugues Roest Crollius, Götz Lütjens, et al.American Journal of Medical Genetics. Part A|December 14, 2007
Characterization of interstitial Xp duplications in two families by tiling path array CGHAndreas Tzschach, Wei Chen, Fikret Erdogan, et al.Journal of Cell Science|May 21, 2010
TRPV1 acts as a synaptic protein and regulates vesicle recyclingChandan Goswami, Nils Rademacher, Karl-Heinz Smalla, et al.American Journal of Medical Genetics. Part A|March 11, 2006
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2Eva Klopocki, Britta Fiebig, Peter Robinson, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defectsSultan Cingöz, Iben Bache, Lise Bjerglund, et al.European Journal of Pediatrics|October 13, 2007
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHEva Klopocki, Luitgard M Graul-Neumann, Ulrike Grieben, et al.Archives of Iranian Medicine|March 17, 2015
New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian familiesMorteza Oladnabi, Luciana Musante, Farzaneh Larti, et al.European Journal of Human Genetics : EJHG|September 11, 2008
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, et al.European Journal of Human Genetics : EJHG|November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.Pageof 13