The American Journal of Human Genetics

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The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
The American Journal of Human Genetics - Tập 109 - Trang 533-541 - 2022
Jiaxi Yu, Jingli Shan, Meng Yu, Li Di, Zhiying Xie, Wei Zhang, He Lv, Lingchao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Xueyu Guo, Yang Wang, Jianying Xi, Wenhua Zhu, Yuwei Da, Daojun Hong, Yun Yuan, Chuanzhu Yan, Zhaoxia Wang
The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males
The American Journal of Human Genetics - Tập 78 - Trang 999-1010 - 2006
Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, M. Teresa Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie
Mixed Model Association with Family-Biased Case-Control Ascertainment
The American Journal of Human Genetics - Tập 100 Số 1 - Trang 31-39 - 2017
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
The American Journal of Human Genetics - Tập 99 - Trang 1359-1367 - 2016
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, Arakel G. Minassian, Melissa Galati, Rui Han Liu, Maryam Fotouhi, Julia Sommerfeld, Ayman J. Alfrook, Christian Marshall, Susan Walker, Peter Bauer, Stephen W. Scherer, Olaf Riess, Rebecca Buchert, Berge A. Minassian, Peter S. McPherson
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
The American Journal of Human Genetics - Tập 74 - Trang 326-337 - 2004
C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A. Cousin, A.L. Benabid, J. Comoy, P. Frerebeau, B. Gilbert, J.P. Houtteville, M. Jan, F. Lapierre, H. Loiseau, P. Menei, P. Mercier, J.J. Moreau, A. Nivelon-Chevallier, F. Parker, A.M. Redondo
SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
The American Journal of Human Genetics - Tập 93 - Trang 150-157 - 2013
Kishan Kumar Chudasama, Jonathon Winnay, Stefan Johansson, Tor Claudi, Rainer König, Ingfrid Haldorsen, Bente Johansson, Ju Rang Woo, Dagfinn Aarskog, Jørn V. Sagen, C. Ronald Kahn, Anders Molven, Pål Rasmus Njølstad
Linkage Disequilibrium and Gene Mapping: An Empirical Least-Squares Approach
The American Journal of Human Genetics - Tập 62 - Trang 159-170 - 1998
Laura C. Lazzeroni
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
The American Journal of Human Genetics - Tập 99 - Trang 1140-1149 - 2016
Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J.H. Bean, Sherri Bale, Madhuri Hegde
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model
The American Journal of Human Genetics - Tập 107 - Trang 911-931 - 2020
Faycal Guedj, Ashley E. Siegel, Jeroen L.A. Pennings, Fatimah Alsebaa, Lauren J. Massingham, Umadevi Tantravahi, Diana W. Bianchi
Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63
The American Journal of Human Genetics - Tập 91 - Trang 435-443 - 2012
Brian J. Zarnegar, Dan E. Webster, Vanessa Lopez-Pajares, Brook Vander Stoep Hunt, Kun Qu, Karen J. Yan, David R. Berk, George L. Sen, Paul A. Khavari
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