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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

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

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

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

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

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

Are Sequence Family Variants Useful for Identifying Deletions in the Human Y Chromosome?

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

Authors: Sjoerd Repping | Cindy M. Korver | Robert D. Oates | Sherman Silber | Fulco van der Veen | David C. Page | Steve Rozen

https://doi.org/10.1086/423394 Actions

2011 William Allan Award Introduction: John M. Opitz 1

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

Authors: Maximilian Muenke

https://doi.org/10.1016/j.ajhg.2012.01.011 Actions

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

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

Authors: Muhammad Arshad Rafiq | Andreas W. Kuss | Lucia Puettmann | Abdul Noor | Annapoorani Ramiah | Ghazanfar Ali | Hao Hu | Nadir Ali Kerio | Yong Xiang | Masoud Garshasbi | Muzammil Ahmad Khan | Gisele E. Ishak | Rosanna Weksberg | Reinhard Ullmann | Andreas Tzschach | Kimia Kahrizi | Khalid Mahmood | Farooq Naeem | Muhammad Ayub | Kelley W. Moremen | John B. Vincent | Hans Hilger Ropers | Muhammad Ansar | Hossein Najmabadi

https://doi.org/10.1016/j.ajhg.2011.06.006 Actions

Specificity in Transforming Growth Factor–β Signaling Pathways

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

Authors: C.J. Ring | K.W.Y. Cho

https://doi.org/10.1086/302302 Actions

Evidence for Autosomal Dominant Inheritance of Prostate Cancer

JOURNAL ARTICLE published June 1998 in The American Journal of Human Genetics

Authors: Daniel J. Schaid | Shannon K. McDonnell | Michael L. Blute | Stephen N. Thibodeau

https://doi.org/10.1086/301862 Actions

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

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

Authors: Samantha J.L. Knight | Christa M. Lese | Kathrin S. Precht | Julie Kuc | Yi Ning | Sarah Lucas | Regina Regan | Mary Brenan | Alison Nicod | N. Martin Lawrie | Donald L.N. Cardy | Huy Nguyen | Thomas J. Hudson | Harold C. Riethman | David H. Ledbetter | Jonathan Flint

https://doi.org/10.1086/302998 Actions
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