Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Syndrome and CHAT[original query] |
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| 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. American journal of medical genetics. Part A 2005 1 133A (2): 189-92. Rossi Elena, de Gregori Manuela, Grazia Patricelli Maria, Pramparo Tiziano, Argentiero Luisa, Giglio Sabrina, Sosta Katiuscia, Foresti Giovanni, Zuffardi Orset |
| Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. American journal of obstetrics and gynecology 2015 Mar 212 (3): 332.e1-9. Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Pet |
| 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 |
| Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2017 Jan 1-21. Yang Xiuling, Liu Wenmiao, Yi Mingji, Zhang Ru, Xu Yinglei, Huang Zuzhou, Liu Shiguo, Li Ta |
| 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 |
| F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome. Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2019 12 61 (8): 1195-1199. Cistaro Angelina, Quartuccio Natale, Piccardo Arnoldo, Fania Piercarlo, Spunton Marianna, Liava Alexandra, Danesino Cesare, Albani Giovanni, Guala Andr |
| [Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. Zhonghua yi xue za zhi 2021 4 101 (15): 1088-1092. Shi J P, Tan P, Li J M, Zhang |
- Page last reviewed:Feb 1, 2024
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