The American Journal of Human Genetics
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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
The American Journal of Human Genetics - Tập 93 - Trang 932-944 - 2013
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
The American Journal of Human Genetics - Tập 99 - Trang 912-916 - 2016
Baboons as an Animal Model for Genetic Studies of Common Human Disease
The American Journal of Human Genetics - Tập 61 - Trang 489-493 - 1997
A Statistical Framework to Guide Sequencing Choices in Pedigrees
The American Journal of Human Genetics - Tập 94 - Trang 257-267 - 2014
Familial Aggregation of Absolute Pitch
The American Journal of Human Genetics - Tập 67 - Trang 755 - 2000
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and environment interactions in the development of complex human behaviors. Individuals who score exceptionally well on formalized auditory tests of pitch perception are designated as “AP-1.” As described in this report, auditory testing of siblings of AP-1 probands and of a control sample indicates that AP-1 aggregates in families. The implications of this finding for the mapping of loci for AP-1 predisposition are discussed.
The Making of the African mtDNA Landscape
The American Journal of Human Genetics - Tập 71 - Trang 1082-1111 - 2002
What Is the Significance of Difference in Phenotypic Variability across SNP Genotypes?
The American Journal of Human Genetics - Tập 93 - Trang 390-397 - 2013
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
The American Journal of Human Genetics - Tập 105 - Trang 689-705 - 2019
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US
The American Journal of Human Genetics - Tập 107 - Trang 251-264 - 2020
Accelerated Telomere Shortening in the Human Inactive X Chromosome
The American Journal of Human Genetics - Tập 65 - Trang 1617-1622 - 1999
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