Human Genome Epidemiology Literature Finder
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Records 1 - 3 (of 3 Records) |
| Query Trace: Counseling and ACTA1[original query] |
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| New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
| [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
| Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
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