Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Atrophy and NR2F1[original query] |
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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 |
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 |
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy. Frontiers in neurology 2022 9 13 978532. Seo Yuri, Kim Tae Young, Won Dongju, Shin Saeam, Choi Jong Rak, Lee Seung-Tae, Lee Byung Joo, Lim Hyun Taek, 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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