Showing results (31-40 of 46) with videos related to
Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variantsCheng Xu, Daniele Cassatella, Almer M van der Sloot, et al.Plos Biology|March 27, 2014
Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signalingRajesh Jayachandran, Xiaolong Liu, Somdeb Bosedasgupta, et al.Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Journal of Medical Genetics|April 13, 2023
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndromeRicardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, et al.Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.Pageof 5