Human Mutation
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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij
Human Mutation - Tập 22 Số 2 - Trang 144-150 - 2003
A common haplotype at the 5′ end of the<i>RET</i>proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
Human Mutation - Tập 25 Số 2 - Trang 189-195 - 2005
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Human Mutation - Tập 34 Số 9 - Trang E2393-E2402 - 2013
A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling<i>CrebA</i>knockout mouse
Human Mutation - Tập 33 Số 4 - Trang 651-654 - 2012
Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease
Human Mutation - Tập 31 Số 1 - Trang 5-10 - 2010
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Human Mutation - Tập 37 Số 6 - Trang 564-569 - 2016
Mutations in the<i>SURF1</i>gene associated with Leigh syndrome and cytochrome<i>c</i>oxidase deficiency
Human Mutation - Tập 17 Số 5 - Trang 374-381 - 2001
Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity
Human Mutation - Tập 34 Số 2 - Trang 296-300 - 2013
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Human Mutation - Tập 32 Số 1 - Trang 59-69 - 2011
Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America
Human Mutation - Tập 30 Số 1 - Trang 69-78 - 2009
Tổng số: 30
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