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Frontiers in Genetics|March 17, 2020
<i>De Novo</i> Small Supernumerary Marker Chromosomes Arising From Partial Trisomy RescueKeiko Matsubara, Kaede Yanagida, Toshiro Nagai, et al.Clinical Epigenetics|June 5, 2024
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature reviewKaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, 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.Cureus|March 18, 2025
Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann SyndromeYuri Hasegawa, Shoko Miura, Masayo Kagami, et al.Journal of Human Genetics|August 19, 2008
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMRKazuki Yamazawa, Masayo Kagami, Maki Fukami, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|March 28, 2006
Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitusMasayo Kagami-Takasugi, Noriyuki Katsumata, Toshiaki Tanaka, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 11, 2021
Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic <i>SAMD9</i> variantKanako Tanase-Nakao, Masanobu Kawai, Kazuko Wada, et al.Clinical Case Reports|January 30, 2018
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndromeMarte G Haug, Atle Brendehaug, Gunnar Houge, et al.European Journal of Human Genetics : EJHG|February 19, 2015
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, et al.European Journal of Medical Genetics|August 11, 2022
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutationHiroyuki Higashiyama, Yoshiteru Ohsone, Rieko Takatani, et al.Pageof 11