Human Mutation

Công bố khoa học tiêu biểu

Sắp xếp:  
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij
Human Mutation - Tập 22 Số 2 - Trang 144-150 - 2003
Xiao‐Hua Wu, Jeffrey S. Rush, Denise Karaoglu, Donna M. Krasnewich, Mark Lubinsky, Charles J. Waechter, Reid Gilmore, Hudson H. Freeze
A common haplotype at the 5′ end of the<i>RET</i>proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
Human Mutation - Tập 25 Số 2 - Trang 189-195 - 2005
Paola Griseri, Tiziana Bachetti, Francesca Puppo, Francesca Lantieri, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Human Mutation - Tập 34 Số 9 - Trang E2393-E2402 - 2013
Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle
A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling<i>CrebA</i>knockout mouse
Human Mutation - Tập 33 Số 4 - Trang 651-654 - 2012
Sohei Kitazawa, Takeshi Kondo, Kiyoshi Mori, Naoki Yokoyama, Masafumi Matsuo, Riko Kitazawa
Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease
Human Mutation - Tập 31 Số 1 - Trang 5-10 - 2010
Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Human Mutation - Tập 37 Số 6 - Trang 564-569 - 2016
Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott, Reece K. Hart, Marc S. Greenblatt, Jean McGowan‐Jordan, Anne‐Françoise Roux, Tim D. Smith, Stylianos E. Antonarakis, Peter E.M. Taschner
Mutations in the<i>SURF1</i>gene associated with Leigh syndrome and cytochrome<i>c</i>oxidase deficiency
Human Mutation - Tập 17 Số 5 - Trang 374-381 - 2001
Marie O. Péquignot, Runu Dey, Massimo Zeviani, Valeria Tiranti, Catherine Godinot, Alain Poyau, Carolyn M. Sue, Salvatore Di Mauro, Marc Abitbol, C Marsac
Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity
Human Mutation - Tập 34 Số 2 - Trang 296-300 - 2013
Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I. Wolf, Vincent Plagnol, Katherine A. Fawcett, Matthew Moore, Dena Hernández, S Musumeci, Michael Tennison, Raoul C. M. Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather C Mefford, Evan E. Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Human Mutation - Tập 32 Số 1 - Trang 59-69 - 2011
Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, Janet Koster, Ronald J. A. Wanders, Hans R. Waterham
Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America
Human Mutation - Tập 30 Số 1 - Trang 69-78 - 2009
Roman Kosoy, Rami Nassir, Chao Tian, Phoebe A. White, Lesley M. Butler, Gabriel Silva, Rick A. Kittles, Marta E. Alarcón‐Riquelme, Peter K. Gregersen, John W. Belmont, Francisco M. De La Vega, Michael F. Seldin
Tổng số: 30   
  • 1
  • 2
  • 3