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Article

Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273

Nguyen, TTM, Murakami, Y, Sheridan, E orcid.org/0000-0002-7237-6280 et al. (29 more authors) (2017) Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101 (5). pp. 856-865. ISSN 0002-9297

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Roosing, S, Hofree, M, Kim, S et al. (42 more authors) (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife, 4. e06602. ISSN 2050-084X

This list was generated on Sat May 1 21:39:20 2021 BST.