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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 26, 2023. (Total: 221463Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Coffin-Lowry Syndrome and RPS6KA3[original query]
Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.
Molecular genetics and metabolism 2012 Nov 107 (3): 580-5.
Niida Yo, Kuroda Mondo, Mitani Yusuke, Okumura Akiko, Yokoi Aya
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8.
Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez Minerva, Yung Christina K, Trinh Quang M, Peltekova Vanya D, Reid Jeffrey G, Tworog-Dube Erica, Morgan Margaret B, Muzny Donna M, Stein Lincoln, McPherson John D, Roberts Amy E, Gibbs Richard A, Neel Benjamin G, Kucherlapati Ra
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.
Animal genetics 2019 11 51 (1): 122-126.
Vasiliadis D, Dierks C, Hoffmann H, Hellige M, Hewicker-Trautwein M, Metzger J, Distl
[Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 8 37 (8): 863-866.
Zeng Lina, Xu Qing, Li Lijun, Wu Lingf
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Medicina (Kaunas, Lithuania) 2022 7 58 (7): .
Jin Huiying, Li Haifeng, Qiang S
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