Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Ataxia-oculomotor Apraxia-3[original query] |
---|
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. Journal of clinical neurology (Seoul, Korea) 2018 9 14 (4): 498-504. Tariq Huma, Imran Rashid, Naz Sad |
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology 2018 1 75 (4): 495-502. Renaud Mathilde, Moreira Maria-Céu, Ben Monga Bondo, Rodriguez Diana, Debs Rabab, Charles Perrine, Chaouch Malika, Ferrat Farida, Laurencin Chloé, Vercueil Laurent, Mallaret Martial, M'Zahem Abderrahim, Pacha Lamia Ali, Tazir Meriem, Tilikete Caroline, Ollagnon Elisabeth, Ochsner François, Kuntzer Thierry, Jung Hans H, Beis Jean-Marie, Netter Jean-Claude, Djamshidian Atbin, Bower Mattew, Bottani Armand, Walsh Richard, Murphy Sinead, Reiley Thomas, Bieth Éric, Roelens Filip, Poll-The Bwee Tien, Lourenço Charles Marques, Jardim Laura Bannach, Straussberg Rachel, Landrieu Pierre, Roze Emmanuel, Thobois Stéphane, Pouget Jean, Guissart Claire, Goizet Cyril, Dürr Alexandra, Tranchant Christine, Koenig Michel, Anheim Mathi |
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. Fetal and pediatric pathology 2019 11 40 (2): 174-180. Bitarafan Fatemeh, Khodaeian Mehrnoosh, Almadani Navid, Kalhor Alireza, Sardehaei Elham Amjadi, Garshasbi Maso |
- Page last reviewed:Feb 1, 2024
- Content source: