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Human Genome Variation|March 14, 2018
An unclassified variant of <i>CHD7</i> activates a cryptic splice site in a patient with CHARGE syndromeYuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, et al.The Journal of Clinical Endocrinology and Metabolism|March 13, 2002
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short statureGudrun A Rappold, Maki Fukami, Beate Niesler, et al.Journal of Human Genetics|May 23, 2022
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring systemTomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.Journal of the Endocrine Society|March 10, 2022
Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the MouseYasuko Fujisawa, Hiroyuki Ono, Alu Konno, et al.Clinical Epigenetics|May 5, 2023
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametesKaori Hara-Isono, Keiko Matsubara, Akie Nakamura, et al.The Journal of Clinical Endocrinology and Metabolism|June 11, 2010
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletionSumito Dateki, Maki Fukami, Ayumi Uematsu, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|April 3, 2015
Novel Splice Site Mutation in MAMLD1 in a Patient with HypospadiasMaki Igarashi, Yuka Wada, Yoshiyuki Kojima, et al.American Journal of Medical Genetics. Part A|January 5, 2021
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex developmentKikumi Ushijima, Yuya Ogawa, Miho Terao, et al.Hepatology Research : the Official Journal of the Japan Society of Hepatology|July 26, 2023
Rare sequence variants associated with the risk of non-syndromic biliary atresiaSatoshi Tamaoka, Akinari Fukuda, Kazuhiko Nakabayashi, et al.Endocrine Journal|January 19, 2011
GATA3 abnormalities in six patients with HDR syndromeMaki Fukami, Koji Muroya, Tetsuo Miyake, et al.Pageof 32