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Showing results for ISSN matching 0002-9297

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

JOURNAL ARTICLE published July 2010 in The American Journal of Human Genetics

Authors: Jessica C. Gardner | Tom R. Webb | Naheed Kanuga | Anthony G. Robson | Graham E. Holder | Andrew Stockman | Caterina Ripamonti | Neil D. Ebenezer | Olufunmilola Ogun | Sophie Devery | Genevieve A. Wright | Eamonn R. Maher | Michael E. Cheetham | Anthony T. Moore | Michel Michaelides | Alison J. Hardcastle

https://doi.org/10.1016/j.ajhg.2010.05.019 Actions

Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease

JOURNAL ARTICLE published September 2011 in The American Journal of Human Genetics

Authors: Tuuli Lappalainen | Stephen B. Montgomery | Alexandra C. Nica | Emmanouil T. Dermitzakis

https://doi.org/10.1016/j.ajhg.2011.08.004 Actions

Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

JOURNAL ARTICLE published December 1999 in The American Journal of Human Genetics

Authors: Lihua Ying | Yitzhak Katz | Menachem Schlesinger | Rivka Carmi | Hanna Shalev | Neena Haider | Gretel Beck | Val C. Sheffield | Daniel Landau

https://doi.org/10.1086/302673 Actions

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

JOURNAL ARTICLE published January 1999 in The American Journal of Human Genetics

Authors: Mayada Tassabehji | Kay Metcalfe | Annette Karmiloff-Smith | Martin J. Carette | Julia Grant | Nick Dennis | W. Reardon | Miranda Splitt | Andrew P. Read | Dian Donnai

https://doi.org/10.1086/302214 Actions

The X Chromosome and the Rate of Deleterious Mutations in Humans

JOURNAL ARTICLE published August 2000 in The American Journal of Human Genetics

Authors: Francesco Giannelli | Peter M. Green

https://doi.org/10.1086/303010 Actions

Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications

JOURNAL ARTICLE published August 2000 in The American Journal of Human Genetics

Authors: Jonathan D. Wren | Eva Forgacs | John W. Fondon | Alexander Pertsemlidis | Sandra Y. Cheng | Teresa Gallardo | R.S. Williams | Ralph V. Shohet | John D. Minna | Harold R. Garner

https://doi.org/10.1086/303013 Actions

Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes

JOURNAL ARTICLE published February 2022 in The American Journal of Human Genetics

Research funded by Medical Research Council (MC_UU_00011/1) | British Heart Foundation (FS/17/60/33474)

Authors: Genevieve M. Leyden | Chin Yang Shapland | George Davey Smith | Eleanor Sanderson | Michael P. Greenwood | David Murphy | Tom G. Richardson

https://doi.org/10.1016/j.ajhg.2021.12.013 Actions

Effects of HFE C282Y and H63D Polymorphisms and Polygenic Background on Iron Stores in a Large Community Sample of Twins

JOURNAL ARTICLE published April 2000 in The American Journal of Human Genetics

Authors: J.B. Whitfield | L.M. Cullen | E.C. Jazwinska | L.W. Powell | A.C. Heath | G. Zhu | D.L. Duffy | N.G. Martin

https://doi.org/10.1086/302862 Actions

Haplotype-Based Association Analysis via Variance-Components Score Test

JOURNAL ARTICLE published November 2007 in The American Journal of Human Genetics

Authors: Jung-Ying Tzeng | Daowen Zhang

https://doi.org/10.1086/521558 Actions

Phasing of Many Thousands of Genotyped Samples

JOURNAL ARTICLE published August 2012 in The American Journal of Human Genetics

Authors: Amy L. Williams | Nick Patterson | Joseph Glessner | Hakon Hakonarson | David Reich

https://doi.org/10.1016/j.ajhg.2012.06.013 Actions

Recent Developments in Genomewide Association Scans: A Workshop Summary and Review

JOURNAL ARTICLE published September 2005 in The American Journal of Human Genetics

Authors: Duncan C. Thomas | Robert W. Haile | David Duggan

https://doi.org/10.1086/432962 Actions

Genomic Medicine Year in Review: 2020

JOURNAL ARTICLE published December 2020 in The American Journal of Human Genetics

Authors: Teri A. Manolio | Carol J. Bult | Rex L. Chisholm | Patricia A. Deverka | Geoffrey S. Ginsburg | Madison Goldrich | Gail P. Jarvik | George A. Mensah | Mary V. Relling | Dan M. Roden | Robb Rowley | Cecelia Tamburro | Marc S. Williams | Eric D. Green

https://doi.org/10.1016/j.ajhg.2020.11.005 Actions

Employment Opportunites; Training Programs

JOURNAL ARTICLE published August 2003 in The American Journal of Human Genetics

https://doi.org/10.1086/377595 Actions

This Month in The Journal

JOURNAL ARTICLE published May 2012 in The American Journal of Human Genetics

Authors: Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2012.04.005 Actions

This Month in Genetics

JOURNAL ARTICLE published March 2009 in The American Journal of Human Genetics

Authors: Kathryn B. Garber

https://doi.org/10.1016/j.ajhg.2009.02.008 Actions

On the Age of the Most Prevalent Gaucher Disease–Causing Mutation, N370S

JOURNAL ARTICLE published June 2000 in The American Journal of Human Genetics

Authors: Anna Díaz | Magda Montfort | Bru Cormand | Baijin Zeng | Gregory M. Pastores | Amparo Chabás | Lluïsa Vilageliu | Daniel Grinberg

https://doi.org/10.1086/302935 Actions

This Month in The Journal

JOURNAL ARTICLE published July 2020 in The American Journal of Human Genetics

Authors: Sarah Ratzel | Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2020.06.007 Actions

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

JOURNAL ARTICLE published September 2009 in The American Journal of Human Genetics

Authors: Roberto Giorda | M. Clara Bonaglia | Silvana Beri | Marco Fichera | Francesca Novara | Pamela Magini | Jill Urquhart | Freddie H. Sharkey | Claudio Zucca | Rita Grasso | Susan Marelli | Lucia Castiglia | Daniela Di Benedetto | Sebastiano A. Musumeci | Girolamo A. Vitello | Pinella Failla | Santina Reitano | Emanuela Avola | Francesca Bisulli | Paolo Tinuper | Massimo Mastrangelo | Isabella Fiocchi | Luigina Spaccini | Claudia Torniero | Elena Fontana | Sally Ann Lynch | Jill Clayton-Smith | Graeme Black | Philippe Jonveaux | Bruno Leheup | Marco Seri | Corrado Romano | Bernardo dalla Bernardina | Orsetta Zuffardi

https://doi.org/10.1016/j.ajhg.2009.08.014 Actions

Huntington’s Disease

JOURNAL ARTICLE published April 2004 in The American Journal of Human Genetics

Authors: P. Hemachandra Reddy

https://doi.org/10.1086/382787 Actions

Reply to Silva et al.

JOURNAL ARTICLE published May 2003 in The American Journal of Human Genetics

Authors: Yong-Gang Yao | Vincent Macaulay | Toomas Kivisild | Ya-Ping Zhang | Hans-Jürgen Bandelt

https://doi.org/10.1086/375117 Actions
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