Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Abnormalities and RIT1[original query] |
---|
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 |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics 2015 Dec . Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, Okamoto Nobuhiko, Hayashi Shion, Watanabe Atsushi, Yokozawa Masato, Suzumura Hiroshi, Nakahara Akihiko, Nakano Yusuke, Hokosaki Tatsunori, Ohmori Ayumi, Sawada Hirofumi, Migita Ohsuke, Mima Aya, Lapunzina Pablo, Santos-Simarro Fernando, García-Miñaúr Sixto, Ogata Tsutomu, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Kure Shigeo, Aoki Yo |
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. Frontiers in genetics 2019 5 10 333. Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi |
RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: