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European Journal of Human Genetics (2)
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Showing 1–7 of 7 results

Advanced filters: Author: Wen-Hann Tan Clear advanced filters

Infant mortality: the contribution of genetic disorders

Monica H. Wojcik
Talia S. Schwartz
Pankaj B. Agrawal
Research08 Aug 2019
Journal of Perinatology

Volume: 39, P: 1611-1619
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Christopher Walsh and colleagues identify mutations in CHMP1A in human cerebellar hypoplasia and microcephaly. Cells lacking CHMP1A show decreased cell proliferation and decreased expression of BMI1, a negative regulator of stem cell proliferation.

Ganeshwaran H Mochida
Vijay S Ganesh
Christopher A Walsh
Research30 Sept 2012
Nature Genetics

Volume: 44, P: 1260-1264
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Sakshi Singh
Aditi Gupta
Bobby P. C. Koeleman
ResearchOpen Access05 May 2020
Genetics in Medicine

Volume: 22, P: 1413-1417
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Nina B. Gold
Ian M. Campbell
Wen-Hann Tan
ResearchOpen Access05 Oct 2021
Scientific Reports

Volume: 11, P: 1-9
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Zain Awamleh
Eric Chater-Diehl
Rosanna Weksberg
ResearchOpen Access01 Apr 2022
European Journal of Human Genetics

Volume: 30, P: 695-702
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Marius Keute
Meghan T. Miller
Joerg F. Hipp
ResearchOpen Access13 Aug 2020
Molecular Psychiatry

Volume: 26, P: 3625-3633
Expansion of phenotype and genotypic data in CRB2-related syndrome

Ryan E Lamont
Wen-Hann Tan
Anne M Slavotinek
Research23 Mar 2016
European Journal of Human Genetics

Volume: 24, P: 1436-1444