Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes ProjectAmerican journal of human genetics, 2018-04, Vol.102 (4), p.658-675 [Peer Reviewed Journal]2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.02.013 ;PMID: 29551419Full text available |
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2 |
Material Type: Article
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Most of rare missense alleles in humans are deleterious:implications for evolution of complex disease and associationstudiesAmerican journal of human genetics, 2006-10, Vol.80 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605Full text available |
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3 |
Material Type: Article
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Asian affinities and continental radiation of the four founding native American mtDNAsAmerican journal of human genetics, 1993-09, Vol.53 (3), p.563-590 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7688932 ;CODEN: AJHGAGFull text available |
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4 |
Material Type: Article
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mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native AmericansAmerican journal of human genetics, 1993-09, Vol.53 (3), p.591-608 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7688933 ;CODEN: AJHGAGFull text available |
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5 |
Material Type: Article
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Anticipation in bipolar affective disorderAmerican journal of human genetics, 1993-08, Vol.53 (2), p.385-390 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8328456 ;CODEN: AJHGAGFull text available |
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6 |
Material Type: Article
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Linkage and mutational analysis of familial alzheimer disease kindreds for the APP gene regionAmerican journal of human genetics, 1992-11, Vol.51 (5), p.998-1014 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 1415269 ;CODEN: AJHGAGFull text available |
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7 |
Material Type: Article
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Extended multipoint identity-by-descent analysis of human quantitative traits : efficiency, power, and modeling considerationsAmerican journal of human genetics, 1993-12, Vol.53 (6), p.1306-1319 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8250047 ;CODEN: AJHGAGFull text available |
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8 |
Material Type: Article
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Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic DistributionAmerican journal of human genetics, 1998-09, Vol.63 (3), p.847-860 [Peer Reviewed Journal]1998 The American Society of Human Genetics ;1998 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/301999 ;PMID: 9718330 ;CODEN: AJHGAGFull text available |
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9 |
Material Type: Article
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Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites : application to metabolic epidemiologyAmerican journal of human genetics, 1993-04, Vol.52 (4), p.827-834 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8460648 ;CODEN: AJHGAGFull text available |
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10 |
Material Type: Article
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Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe diseaseAmerican journal of human genetics, 1992-01, Vol.50 (1), p.222-228 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 1370365Full text available |
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11 |
Material Type: Article
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Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome Ip, and evidence for genetic heterogeneityAmerican journal of human genetics, 1993-03, Vol.52 (3), p.537-550 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;CODEN: AJHGAGFull text available |
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12 |
Material Type: Article
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Mutation analysis of the Fanconi anemia gene FACCAmerican journal of human genetics, 1994-04, Vol.54 (4), p.595-601 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8128956 ;CODEN: AJHGAGFull text available |
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13 |
Material Type: Article
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Mutational analysis of patients with adenomatous polyposis : identical inactivating mutations in unrelated individualsAmerican journal of human genetics, 1993-02, Vol.52 (2), p.263-272 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8381579 ;CODEN: AJHGAGFull text available |
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14 |
Material Type: Article
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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi populationAmerican journal of human genetics, 1992-11, Vol.51 (5), p.951-956 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 1384328 ;CODEN: AJHGAGFull text available |
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15 |
Material Type: Article
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Linkage of cutaneous malignant melanoma/dysplastic nevi to chromosome 9p, and evidence for genetic heterogeneityAmerican journal of human genetics, 1994-03, Vol.54 (3), p.489-496 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8116618 ;CODEN: AJHGAGFull text available |
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16 |
Material Type: Article
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Analysis of HLA class II haplotypes in the Cayapa Indians of Ecuador : a novel DRBI allele reveals evidence for convergent evolution and balancing selection at position 86American journal of human genetics, 1994-07, Vol.55 (1), p.160-167 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;CODEN: AJHGAGFull text available |
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17 |
Material Type: Article
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The haplotype-relative-risk (HRR) method for analysis of association in nuclear familiesAmerican journal of human genetics, 1993-06, Vol.52 (6), p.1085-1093 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8503442Full text available |
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18 |
Material Type: Article
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Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomesAmerican journal of human genetics, 1993-02, Vol.52 (2), p.297-304 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8094266 ;CODEN: AJHGAGFull text available |
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19 |
Material Type: Article
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Linkage analysis of schizophrenia with five dopamine receptor genes in nine pedigreesAmerican journal of human genetics, 1993-02, Vol.52 (2), p.327-334 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8094267 ;CODEN: AJHGAGFull text available |
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20 |
Material Type: Article
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Mutation and polymorphism of the prion protein gene in Libyan jews with Creutzfeldt-Jakob disease (CJD)American journal of human genetics, 1993-10, Vol.53 (4), p.828-835 [Peer Reviewed Journal]1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8105682 ;CODEN: AJHGAGFull text available |