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Joe C H Sim

Showing results (1-10 of 5) with videos related to

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Intractable & Rare Diseases Research|February 13, 2015
ARID1B-mediated disorders: Mutations and possible mechanismsJoe C H Sim, Susan M White, Paul J Lockhart
Neurology. Genetics|April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossAshley P L Marsh, Vesna Lukic, Kate Pope, et al.
Orphanet Journal of Rare Diseases|March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiencyJoe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Intractable & Rare Diseases Research|February 13, 2015
ARID1B-mediated disorders: Mutations and possible mechanismsJoe C H Sim, Susan M White, Paul J Lockhart
Neurology. Genetics|April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossAshley P L Marsh, Vesna Lukic, Kate Pope, et al.
Orphanet Journal of Rare Diseases|March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiencyJoe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Pageof 1