The American Journal of Human Genetics

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MDR1 Ala893 Polymorphism Is Associated with Inflammatory Bowel Disease
The American Journal of Human Genetics - Tập 73 - Trang 1282-1292 - 2003
Steven R. Brant, Carolien I.M. Panhuysen, Dan Nicolae, Deepthi M. Reddy, Denise K. Bonen, Reda Karaliukas, Leilei Zhang, Eric Swanson, Lisa W. Datta, Thomas Moran, Geoffrey Ravenhill, Richard H. Duerr, Jean-Paul Achkar, Amir S. Karban, Judy H. Cho
Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11
The American Journal of Human Genetics - Tập 64 Số 3 - Trang 747-758 - 1999
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
The American Journal of Human Genetics - Tập 84 - Trang 148-161 - 2009
Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
The American Journal of Human Genetics - Tập 98 - Trang 473-489 - 2016
Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik-Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans Hilmar Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel
A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes
The American Journal of Human Genetics - Tập 109 - Trang 1814-1827 - 2022
Han Kyu Lee, Do Hoon Kwon, David L. Aylor, Douglas A. Marchuk
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
The American Journal of Human Genetics - Tập 91 - Trang 1095-1102 - 2012
Carlo Rinaldi, Christopher Grunseich, Irina F. Sevrioukova, Alice Schindler, Iren Horkayne-Szakaly, Costanza Lamperti, Guida Landouré, Marina L. Kennerson, Barrington G. Burnett, Carsten Bönnemann, Leslie G. Biesecker, Daniele Ghezzi, Massimo Zeviani, Kenneth H. Fischbeck
Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase
The American Journal of Human Genetics - Tập 67 - Trang 23-36 - 2000
Aleksander Hinek, Sunqu Zhang, Adam C. Smith, John W. Callahan
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
The American Journal of Human Genetics - Tập 93 - Trang 926-931 - 2013
Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
The American Journal of Human Genetics - Tập 103 - Trang 125-130 - 2018
David Coman, Lisenka E.L.M. Vissers, Lisa G. Riley, Michael P. Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo F.H. Engelke, T. Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R. Waterham, John Christodoulou, Ron A. Wevers, James Pitt
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
The American Journal of Human Genetics - Tập 106 - Trang 694-706 - 2020
Andrew P. Badrock, Carolina Uggenti, Ludivine Wacheul, Siobhan Crilly, Emma M. Jenkinson, Gillian I. Rice, Paul R. Kasher, Denis L.J. Lafontaine, Yanick J. Crow, Raymond T. O’Keefe
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