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Journal of Pediatric Endocrinology & Metabolism : JPEM|September 16, 2017
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadismKohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, et al.Brain & Development|May 8, 2022
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variantKosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, et al.Brain & Development|June 11, 2019
Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>CAtsuko Kori, Ikumi Hori, Tatsushi Tanaka, et al.International Journal of Cardiology|October 19, 2020
Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defectHidenori Yamamoto, Satoshi Hayano, Yusuke Okuno, et al.Epilepsy Research|November 10, 2009
MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activityKeitaro Sueda, Fumiya Takeuchi, Hideaki Shiraishi, et al.Brain & Development|March 25, 2019
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndromeAya Hashimoto, Ichiro Kuki, Masataka Fukuoka, et al.Japanese Journal of Clinical Oncology|January 29, 2015
Good death for children with cancer: a qualitative studyYoshinori Ito, Toru Okuyama, Yasuhiko Ito, et al.Nature Communications|October 29, 2025
Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndromeAkisa Nemoto, Kent Imaizumi, Fuyuki Miya, et al.Pediatric Research|July 9, 2021
Death review of children receiving medical care at homeJun Natsume, Atsushi Numaguchi, Atsuko Ohno, et al.Orphanet Journal of Rare Diseases|December 4, 2019
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancyYutaka Negishi, Daisuke Ieda, Ikumi Hori, et al.Pageof 27