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
Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, Claudio R. Cortés, Aideen M. McInerney-Leo, Richard D. Emes, Heleen H. Arts, Beyhan Tüysüz, Jason D’Silva, Paul J. Leo, Tom C. Giles, Machteld M. Oud, Jessica A. Harris, Marije Koopmans, Mhairi Marshall, Nursel Elçioglu, Alma Kuechler, Detlef Bockenhauer, Anthony T. Moore, Louise C. Wilson
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
Anide Johansen, Rasim O. Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben-Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra
Baboons as an Animal Model for Genetic Studies of Common Human Disease
The American Journal of Human Genetics - Tập 61 - Trang 489-493 - 1997
Jeffrey Rogers, James E. Hixson
A Statistical Framework to Guide Sequencing Choices in Pedigrees
The American Journal of Human Genetics - Tập 94 - Trang 257-267 - 2014
Charles Y.K. Cheung, Elizabeth Marchani Blue, Ellen M. Wijsman
Familial Aggregation of Absolute Pitch
The American Journal of Human Genetics - Tập 67 - Trang 755 - 2000
Siamak Baharloo, Nelson B. Freimer, Susan K. Service, Jane Gitschier, Neil Risch
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
Antonio Salas, Martin Richards, Tomás De la Fe, María-Victoria Lareu, Beatriz Sobrino, Paula Sánchez-Diz, Vincent Macaulay, Ángel Carracedo
What Is the Significance of Difference in Phenotypic Variability across SNP Genotypes?
The American Journal of Human Genetics - Tập 93 - Trang 390-397 - 2013
Xiangqing Sun, Robert Elston, Nathan Morris, Xiaofeng Zhu
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
Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein Dremmen, Marie Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez-Herrera, Amal Alhashem, Ahmed Al Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer
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
Hye In Kim, Bin Ye, Nehal Gosalia, Çiğdem Köroğlu, Robert L. Hanson, Wen-Chi Hsueh, William C. Knowler, Leslie J. Baier, Clifton Bogardus, Alan R. Shuldiner, Cristopher V. Van Hout
Accelerated Telomere Shortening in the Human Inactive X Chromosome
The American Journal of Human Genetics - Tập 65 - Trang 1617-1622 - 1999
Jordi Surrallés, M. Prakash Hande, Ricard Marcos, Peter M. Lansdorp
Tổng số: 2,853   
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