The American Journal of Human Genetics

Công bố khoa học tiêu biểu

Sắp xếp:  
Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
The American Journal of Human Genetics - Tập 82 Số 2 - Trang 510-515 - 2008
Maria K. Tsaousidou, Karim Ouahchi, Thomas T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, R. E. Madrid, Heema Patel, Fayçal Hentati, Michael A. Patton, Afif Hentati, Philippa Lamont, Teepu Siddique, Andrew H. Crosby
Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians
The American Journal of Human Genetics - Tập 82 Số 1 - Trang 194-198 - 2008
Manfred Kayser, Óscar Lao, Kathrin Saar, Silke Brauer, Xingyu Wang, Peter Nürnberg, Ronald J. Trent, Mark Stoneking
Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans
The American Journal of Human Genetics - Tập 81 Số 3 - Trang 626-633 - 2007
Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodríguez-Cintrón, Esteban G. Burchard, Neil Risch
Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families
The American Journal of Human Genetics - Tập 71 Số 2 - Trang 349-364 - 2002
Mary L. Marazita, L. Leigh Field, Margaret E. Cooper, Rose Tobias, Brion S. Maher, Supakit Peanchitlertkajorn, You-e Liu
Gonadoblastoma, Testicular and Prostate Cancers, and the TSPY Gene
The American Journal of Human Genetics - Tập 64 Số 4 - Trang 921-927 - 1999
Yun‐Fai Chris Lau
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
The American Journal of Human Genetics - Tập 68 Số 3 - Trang 577-589 - 2001
Mary E. Brunkow, Jessica C. Gardner, Jeff Van Ness, Bryan Paeper, Brian R. Kovacevich, Sean Proll, John E. Skonier, Lei Zhao, Peter J. Sabo, Ying‐Hui Fu, Reid S. Alisch, Lucille Gillett, Trenton Colbert, Paolo Tacconi, David J. Galas, Herman A. Hamersma, Peter Beighton, J T Mulligan
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
The American Journal of Human Genetics - Tập 78 Số 2 - Trang 193-201 - 2006
Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Gertrud Eckstein, Yardena Tenenbaum‐Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni‐Baruch, N Albers, Peter Lichtner, Dirk Schnabel, Z Hochberg, Tim M. Strom
X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15
The American Journal of Human Genetics - Tập 70 - Trang 1049-1053 - 2002
F. Yesim K. Demirci, Brian W. Rigatti, Gaiping Wen, Amy L. Radak, Tammy S. Mah, Corrine L. Baic, Elias I. Traboulsi, Tiina Alitalo, Juliane Ramser, Michael B. Gorin
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency
The American Journal of Human Genetics - Tập 63 Số 6 - Trang 1609-1621 - 1998
Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo, Claudia Galimberti, M. Munaro, Matteo Granatiero, Leopoldo Zelante, Paolo Gasparini, R. Marzella, Mariano Rocchi, M. Pilar Bayona‐Bafaluy, José Antonio Enrı́quez, Graziella Uziel, Enrico Bertini, Carlo Dionisi‐Vici, Brunella Franco, Thomas Meitinger, Massimo Zeviani
Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene
The American Journal of Human Genetics - Tập 67 Số 6 - Trang 1400-1410 - 2000
J. Andrew Keightley, Roberto P. Anitori, Miriam D. Burton, Franklin Quan, Neil R.M. Buist, Nancy G. Kennaway
Tổng số: 2,734   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 274