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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Syndrome and NR2F1[original query]
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Clinical genetics 2015 Jul .
Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Human genetics 2015 Jun 134 (6): 649-58.
Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shig
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.
Ophthalmic genetics 2019 8 40 (4): 359-361.
Park Sung Eun, Lee Jihei Sara, Lee Seung-Tae, Kim Hye Young, Han Sueng-Han, Han Ji
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023 11 .
Yan Liang, Lin Wan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Ya
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