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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 9, 2024. (Total: 234232Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Leber Congenital Amaurosis and NMNAT1[original query]
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Molecular vision 2014 20 753-9.
Siemiatkowska Anna M, van den Born L Ingeborgh, van Genderen Maria M, Bertelsen Mette, Zobor Ditta, Rohrschneider Klaus, van Huet Ramon A C, Nurohmah Siska, Klevering B Jeroen, Kohl Susanne, Faradz Sultana M H, Rosenberg Thomas, den Hollander Anneke I, Collin Rob W J, Cremers Frans P
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238.
Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Molecular vision 2017 10 23 649-659.
Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Scientific reports 2018 May 8 (1): 8279.
Hosono Katsuhiro, Nishina Sachiko, Yokoi Tadashi, Katagiri Satoshi, Saitsu Hirotomo, Kurata Kentaro, Miyamichi Daisuke, Hikoya Akiko, Mizobuchi Kei, Nakano Tadashi, Minoshima Shinsei, Fukami Maki, Kondo Hiroyuki, Sato Miho, Hayashi Takaaki, Azuma Noriyuki, Hotta Yoshihi
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Molecular vision 2020 3 26 26-35.
Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Orphanet journal of rare diseases 2020 Dec 15 (1): 345.
Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Journal of applied genetics 2022 11 64 (1): 89-104.
Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe
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