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Showing results for ISSN matching 0002-9297

A Novel Homoplasmic Mutation in mtDNA with a Single Evolutionary Origin as a Risk Factor for Cardiomyopathy

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

Authors: Wee Soo Shin | Masashi Tanaka | Jun-ichi Suzuki | Chieko Hemmi | Teruhiko Toyo-oka

https://doi.org/10.1086/316896 Actions

Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area

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

Authors: Ornella Semino | Chiara Magri | Giorgia Benuzzi | Alice A. Lin | Nadia Al-Zahery | Vincenza Battaglia | Liliana Maccioni | Costas Triantaphyllidis | Peidong Shen | Peter J. Oefner | Lev A. Zhivotovsky | Roy King | Antonio Torroni | L. Luca Cavalli-Sforza | Peter A. Underhill | A. Silvana Santachiara-Benerecetti

https://doi.org/10.1086/386295 Actions

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

JOURNAL ARTICLE published April 2016 in The American Journal of Human Genetics

Authors: Ugur M. Ayturk | Javier A. Couto | Steven Hann | John B. Mulliken | Kaitlin L. Williams | August Yue Huang | Steven J. Fishman | Theonia K. Boyd | Harry P.W. Kozakewich | Joyce Bischoff | Arin K. Greene | Matthew L. Warman

https://doi.org/10.1016/j.ajhg.2016.03.009 Actions

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

JOURNAL ARTICLE published April 2002 in The American Journal of Human Genetics

Authors: Kinji Ohno | Andrew G. Engel | Xin-Ming Shen | Duygu Selcen | Joan Brengman | C. Michel Harper | Akira Tsujino | Margherita Milone

https://doi.org/10.1086/339465 Actions

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

JOURNAL ARTICLE published February 2014 in The American Journal of Human Genetics

Authors: Sze Chern Lim | Katherine R. Smith | David A. Stroud | Alison G. Compton | Elena J. Tucker | Ayan Dasvarma | Luke C. Gandolfo | Justine E. Marum | Matthew McKenzie | Heidi L. Peters | David Mowat | Peter G. Procopis | Bridget Wilcken | John Christodoulou | Garry K. Brown | Michael T. Ryan | Melanie Bahlo | David R. Thorburn

https://doi.org/10.1016/j.ajhg.2013.12.015 Actions

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

JOURNAL ARTICLE published November 2001 in The American Journal of Human Genetics

Authors: Caroline Lefèvre | Florence Jobard | Frédéric Caux | Bakar Bouadjar | Aysen Karaduman | Roland Heilig | Hakima Lakhdar | Andreas Wollenberg | Jean-Luc Verret | Jean Weissenbach | Meral Özgüc | Mark Lathrop | Jean-François Prud'homme | Judith Fischer

https://doi.org/10.1086/324121 Actions

Society News

JOURNAL ARTICLE published February 2006 in The American Journal of Human Genetics

Authors: Susanne B. Haga

https://doi.org/10.1086/500332 Actions

Education for Health Professionals and the Public*

JOURNAL ARTICLE published March 2006 in The American Journal of Human Genetics

Authors: Joseph D. McInerney

https://doi.org/10.1086/500277 Actions

This Month in Genetics

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

Authors: Kathryn B. Garber

https://doi.org/10.1016/j.ajhg.2011.07.016 Actions

Genetic Self Knowledge and the Future of Epidemiologic Confounding

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

Authors: Tyler Vander Weele

https://doi.org/10.1016/j.ajhg.2010.07.006 Actions

Erratum

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

https://doi.org/10.1086/379930 Actions

This Month in The Journal

JOURNAL ARTICLE published May 2014 in The American Journal of Human Genetics

Authors: Sarah Ratzel | Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2014.04.008 Actions

Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@ajhg.net. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

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

https://doi.org/10.1086/524025 Actions

Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

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

https://doi.org/10.1086/302695 Actions

Errata

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

https://doi.org/10.1086/302469 Actions

Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

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

https://doi.org/10.1086/302886 Actions

This Month in the Journal

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

Authors: Kathryn Garber

https://doi.org/10.1086/428912 Actions

This Month in The Journal

JOURNAL ARTICLE published August 2017 in The American Journal of Human Genetics

Authors: Sarah Ratzel | Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2017.07.008 Actions

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

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

Authors: Maria Pia Sperandeo | Maria Teresa Bassi | Mirko Riboni | Giancarlo Parenti | Anna Buoninconti | Marta Manzoni | Barbara Incerti | Maria Rosaria Larocca | Maja Di Rocco | Pietro Strisciuglio | Irma Dianzani | Rossella Parini | Miranda Candito | Fumio Endo | Andrea Ballabio | Generoso Andria | Gianfranco Sebastio | Giuseppe Borsani

https://doi.org/10.1086/302700 Actions

This Month in the Journal

JOURNAL ARTICLE published September 1997 in The American Journal of Human Genetics

Authors: John Ashkenas

https://doi.org/10.1086/515494 Actions
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