Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.
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Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyAshkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic diseasePolymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.The science of online dating. Can the application of science to unravel the biological basis of love complement the traditional, romantic ideal of finding a soul mate?Genetic screening in patients of reproductive age. How do you advise prospective parents who want to know specific risks?The changing landscape of carrier screening: expanding technology and options?.Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.High-throughput carrier screening using TaqMan allelic discrimination.Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approachesCarrier testing for autosomal-recessive disorders.Ethnicity-related polymorphisms and haplotypes in the human ABCB1 geneExpanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencingGenetic basis for hypertrophic cardiomyopathy: implications for diagnosis and treatment.Expanded carrier screening in reproductive healthcare: perspectives from genetics professionalsCarrier screening by next-generation sequencing: health benefits and cost effectiveness.Carrier testing for severe childhood recessive diseases by next-generation sequencingAutosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.Expanded carrier screening in an infertile population: how often is clinical decision making affected?Orthodox Ashkenazi Young Adults’ Knowledge, Experiences, Attitudes, and Beliefs About Genetic Carrier Testing
P2860
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P2860
Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Carrier screening for cystic f ...... Medical Center, New York, NY.
@ast
Carrier screening for cystic f ...... Medical Center, New York, NY.
@en
Carrier screening for cystic f ...... Medical Center, New York, NY.
@nl
type
label
Carrier screening for cystic f ...... Medical Center, New York, NY.
@ast
Carrier screening for cystic f ...... Medical Center, New York, NY.
@en
Carrier screening for cystic f ...... Medical Center, New York, NY.
@nl
prefLabel
Carrier screening for cystic f ...... Medical Center, New York, NY.
@ast
Carrier screening for cystic f ...... Medical Center, New York, NY.
@en
Carrier screening for cystic f ...... Medical Center, New York, NY.
@nl
P2093
P1476
Carrier screening for cystic f ...... Medical Center, New York, NY.
@en
P2093
P304
P356
10.1001/ARCHINTE.158.7.777
P407
P577
1998-04-01T00:00:00Z