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Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Orphanet Journal of Rare Diseases|October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexEiko Nagata, Hiroki Kano, Fumiko Kato, et al.Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.Circulation Journal : Official Journal of the Japanese Circulation Society|March 30, 2025
Clinical Impact of Genetic Testing for Long QT Syndrome - Evidence From a Nationwide LQTS Registry in JapanTakeshi Aiba, Seiko Ohno, Misa Takegami, et al.American Journal of Medical Genetics. Part A|August 6, 2013
MLL2 and KDM6A mutations in patients with Kabuki syndromeNoriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, et al.Journal of Medical Genetics|November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromesFransiska Malfait, Clair Francomano, Peter Byers, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.Pageof 17