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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Syndrome and RAPSN[original query]
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Neuromuscular disorders : NMD 2016 12 27 (2): 136-140.
Aharoni Sharon, Sadeh Menachem, Shapira Yehuda, Edvardson Simon, Daana Muhannad, Dor-Wollman Talia, Mimouni-Bloch Aviva, Halevy Ayelet, Cohen Rony, Sagie Liora, Argov Zohar, Rabie Malcolm, Spiegel Ronen, Chervinsky Ilana, Orenstein Naama, Engel Andrew G, Nevo Yor
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Journal of clinical neuromuscular disease 2018 Sep 20 (1): 14-27.
Selvam Pavalan, Arunachal Gautham, Danda Sumita, Chapla Aaron, Sivadasan Ajith, Alexander Mathew, Thomas Maya Mary, Thomas Nihal
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Iranian journal of child neurology 2019 5 13 (2): 135-143.
Parvizi Omran Sima, Houshmand Massod, Dominic Donkor, Farjami Zahra, Karimzadeh Parvan
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