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Human Genome Variation|October 25, 2019
Ten novel insertion/deletion variants in <i>MECP2</i> identified in Japanese patients with Rett syndromeEri Takeshita, Aritoshi Iida, Chihiro Abe-Hatano, et al.
Mitochondrion|August 26, 2009
Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's diseaseNoriko Tanaka, Yu-ichi Goto, Jun Akanuma, et al.
Annals of Neurology|July 12, 2002
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)Maki Takahashi, Ayaka Yamamoto, Kyoko Takano, et al.
Journal of Human Genetics|May 17, 2014
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndromeYutaka Negishi, Ayako Hattori, Eri Takeshita, et al.
Journal of Biochemistry|August 29, 2003
Expression of ARPP-16/19 in rat denervated skeletal muscleAyumu Yoshikawa, Hiroaki Mitsuhashi, Noboru Sasagawa, et al.
Acta Neurologica Belgica|August 7, 2002
Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case reportJunko Fujitake, Haruo Mizuta, Hayato Fujii, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndromeYumi Takahashi, Kana Hosoki, Masafumi Matsushita, et al.
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