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Orphanet Journal of Rare Diseases|July 14, 2011
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Bwee Tien Poll-The, et al.Human Molecular Genetics|January 29, 2011
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasiaPaul R Kasher, Yasmin Namavar, Paula van Tijn, et al.European Journal of Human Genetics : EJHG|March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, et al.American Journal of Medical Genetics. Part A|August 31, 2010
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?John M Graham, Andrew H Spencer, Inessa Grinberg, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 24, 2021
Psychiatric phenotypes associated with hyperprolinemia: A systematic reviewYasmin Namavar, Denise Joanne Duineveld, Geertje Ingena Angelique Both, et al.Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.Pageof 1