Showing results (21-30 of 61) with videos related to
Sort By:
Pageof 7
Human Genome Variation|May 26, 2018
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qterHirokazu Morokawa, Motoko Kamiya, Keiko Wakui, et al.American Journal of Human Genetics|March 22, 2003
Genome architecture catalyzes nonrecurrent chromosomal rearrangementsPaweł Stankiewicz, Christine J Shaw, Jason D Dapper, et al.American Journal of Medical Genetics. Part A|March 13, 2012
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literatureMitsuo Motobayashi, Akira Nishimura-Tadaki, Yuji Inaba, et al.Clinical Dysmorphology|December 1, 2007
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairmentTomoki Kosho, Satoru Sakazume, Hiroshi Kawame, et al.Journal of Human Genetics|December 13, 2006
A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12Yoshihiro Onouchi, Mayumi Tamari, Atsushi Takahashi, et al.American Journal of Medical Genetics. Part A|July 12, 2011
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patientsKenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.American Journal of Medical Genetics|September 20, 2002
Three novel DNMT3B mutations in Japanese patients with ICF syndromeHisao Shirohzu, Takeo Kubota, Azumi Kumazawa, et al.American Journal of Medical Genetics. Part A|November 26, 2010
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literatureYoko Narumi, Tomoki Kosho, Goro Tsuruta, et al.Journal of Human Genetics|May 25, 2021
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, et al.Pageof 7