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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 18, 2007
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano, Eiji Nakagawa, Ken Inoue, et al.Neuromuscular Disorders : NMD|May 29, 2002
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA geneTatsuya Yamasoba, Yu ichi Goto, Yoshitomo Oka, et al.Neuroscience Letters|November 18, 2005
Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigsTatsuya Yamasoba, Yu-Ichi Goto, Hirofumi Komaki, et al.The American Journal of Pathology|April 16, 2014
LOX-1 is a novel therapeutic target in neonatal hypoxic-ischemic encephalopathyTomohisa Akamatsu, Hongmei Dai, Masashi Mizuguchi, et al.Brain Research|May 6, 2008
Brainstem monoamine pathology of neonatal hypoxic-ischemic brain damage: a model of acute stage of neonatal asphyxiaMika Shiraishi, Yuji Takizawa, Shuhei Ide, et al.Pediatric Neurology|January 22, 2008
Clinical and genetic features in a MELAS child with a 3271T>C mutationHsiao-Feng Chou, Wen-Chen Liang, Qing Zhang, et al.Journal of Medical Genetics|October 28, 2024
<i>WDR45</i> variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in femalesChihiro Abe-Hatano, Ken Inoue, Eri Takeshita, et al.Acta Neuropathologica|May 16, 2002
Apoptosis is suspended in muscle of mitochondrial encephalomyopathiesKoji Ikezoe, Masahiro Nakagawa, Chuanzhu Yan, et al.Journal of Human Genetics|December 2, 2011
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardationShozo Honda, Shigeko Satomura, Shin Hayashi, et al.Developmental Medicine and Child Neurology|August 30, 2008
Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movementsSusumu Ito, Tomohiro Nakayama, Shuhei Ide, et al.Pageof 20