about
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsHermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyA missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsDevelopment of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descentHomozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaThe Jerusalem Perinatal Study cohort, 1964-2005: methods and a review of the main resultsExpanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencingGenetics and genomic medicine in IsraelThe possibility of a selection process in the Ashkenazi Jewish population.Genetic screening in the Persian Jewish community: A pilot study.Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.Carrier screening panels for Ashkenazi Jews: is more better?Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Molecular basis of mendelian disorders among Jews.
@ast
Molecular basis of mendelian disorders among Jews.
@en
type
label
Molecular basis of mendelian disorders among Jews.
@ast
Molecular basis of mendelian disorders among Jews.
@en
prefLabel
Molecular basis of mendelian disorders among Jews.
@ast
Molecular basis of mendelian disorders among Jews.
@en
P356
P1476
Molecular basis of mendelian disorders among Jews.
@en
P2093
P304
P356
10.1006/MGME.2000.2969
P577
2000-03-01T00:00:00Z