Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Ataxia and PNKP[original query] |
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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. Journal of pediatric genetics 2019 5 8 (2): 58-62. Rudenskaya Galina E, Marakhonov Andrey V, Shchagina Olga A, Lozier Ekaterina R, Dadali Elena L, Akimova Irina A, Petrova Nika V, Konovalov Fedor |
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 |
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Pediatric neurology 2020 9 113 26-32. Garrelfs Mark R, Takada Sanami, Kamsteeg Erik-Jan, Pegge Sjoert, Mancini Grazia, Engelen Marc, van de Warrenburg Bart, Rennings Alexander, van Gaalen Judith, Peters Ivo, Weemaes Corry, van der Burg Mirjam, Willemsen Michèl |
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society 2022 4 37 (6): 1309-1316. da Costa Sophia Caldas Gonzaga, de Rezende-Filho Flávio C, de Freitas Júlian Leticia, de Assis Pereira Matos Paula Camila Alves, Della-Ripa Bruno, França Marcondes Cavalcante, Marques Wilson, Santos Mariana, Cronemberger Igor Vasconcelos Barros, Vale Thiago Cardoso, Kok Fernando, Alonso Isabel, Pedroso José Luiz, Barsottini Orlando G |
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