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American Journal of Human Genetics|September 12, 2007
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, et al.Journal of Human Genetics|April 4, 2009
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndromeHideo Kuniba, Koh-ichiro Yoshiura, Tatsuro Kondoh, et al.Community Genetics|June 19, 2007
Community engagement and informed consent in the International HapMap projectCharles Rotimi, Mark Leppert, Ichiro Matsuda, et al.American Journal of Medical Genetics. Part A|May 27, 2010
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestationsTomoki Kosho, Noriko Miyake, Atsushi Hatamochi, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)Megumi Yoshimura-Furuhata, Akira Nishimura-Tadaki, Yoshiro Amano, et al.European Journal of Human Genetics : EJHG|September 16, 2004
CD40 ligand gene and Kawasaki diseaseYoshihiro Onouchi, Sakura Onoue, Mayumi Tamari, et al.American Journal of Medical Genetics. Part A|April 22, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosisHiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, et al.American Journal of Medical Genetics. Part A|January 19, 2006
BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake, Osamu Shimokawa, Naoki Harada, et al.Nature Genetics|March 16, 2002
Haploinsufficiency of NSD1 causes Sotos syndromeNaohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada, et al.Human Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.Pageof 13