Showing results (11-20 of 264) with videos related to
Sort By:
Pageof 27
Plos One|October 8, 2013
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndromeNaoki Hamajima, Yoshikazu Johmura, Satoshi Suzuki, et al.Biosensors|February 26, 2026
Investigating Roles of Cerebral Blood Flow to Maintain Thermal Stability of Neonatal Brain Against Cold Stress Using Non-Invasive Probes for Brain Perfusion and Temperature GradientSachiko Iwata, Kennosuke Tsuda, Masahiro Kinoshita, et al.European Journal of Human Genetics : EJHG|May 15, 2008
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotypeKana Hosoki, Tsutomu Ogata, Masayo Kagami, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 30, 2020
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidismTatsushi Tanaka, Kohei Aoyama, Atsushi Suzuki, et al.Journal of Human Genetics|November 1, 2020
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disordersKohji Kato, Fuyuki Miya, Yasuyoshi Oka, et al.Frontiers in Oncology|June 17, 2024
MYCN in human development and diseasesYosuke Nishio, Kohji Kato, Hisashi Oishi, et al.Pediatric Neurology|January 30, 2002
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxiaTakahito Wada, Norio Kobayashi, Yoshio Takahashi, et al.The Journal of Pediatrics|March 19, 2008
[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndromeNaoko Asahina, Tohru Shiga, Kiyoshi Egawa, et al.Plos One|August 21, 2019
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental diseaseYuji Nakamura, Kohji Kato, Naomi Tsuchida, et al.No to Hattatsu = Brain and Development|December 18, 2012
[Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL]Shinya Sakai, Makoto Maki, Naoko Sakai, et al.Pageof 27