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Article

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 Mon Aug 19 00:24:21 2019 BST.