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NARA Subscribed4
Publisher
Springer Nature4
Journal
Human Genetics4
Publication Year
20201
20112
20051
Val C. Sheffield results 4 · Newest (Page 1/1, per page 25)
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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisNARA Subscribed
Human Genetics · 2020 · Vol. 139 · Issue 8 · Springer
Cristina M. Justice; Araceli Cuellar; Krithi Bala; Jeremy A. Sabourin; Michael L. Cunningham; Karen Crawford; Julie M. Phipps; Yan Zhou; Deirdre Cilliers; Jo C. Byren; David Johnson; Steven A. Wall; Jenny E. V. Morton; Peter Noons; Elizabeth Sweeney; Astrid Weber; Katie E. M. Rees; Louise C. Wilson; Emil Simeonov; Radka Kaneva; Nadezhda Yaneva; Kiril Georgiev; Assen Bussarsky; Craig Senders; Marike Zwienenberg; James Boggan; Tony Roscioli; Gianpiero Tamburrini; Marta Barba; Kristin Conway; Val C. Sheffield; Lawrence Brody; James L. Mills; Denise Kay; Robert J. Sicko; Peter H. Langlois; Rachel K. Tittle; Lorenzo D. Botto; Mary M. Jenkins; Janine M. LaSalle; Wanda Lattanzi; Andrew O. M. Wilkie; Alexander F. Wilson; Paul A. Romitti; Simeon A. Boyadjiev
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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12NARA Subscribed
Human Genetics · 2011 · Vol. 129 · Issue 4 · Springer
Emad Muhammad; Neta Leventhal; Galit Parvari; Aaron Hanukoglu; Israel Hanukoglu; Vered Chalifa-Caspi; Yael Feinstein; Jenny Weinbrand; Harel Jacoby; Esther Manor; Tal Nagar; John C. Beck; Val C. Sheffield; Eli Hershkovitz; Ruti Parvari
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Genome-wide analysis of copy number variants in age-related macular degenerationNARA Subscribed
Human Genetics · 2011 · Vol. 129 · Issue 1 · Springer
Kacie J. Meyer; Lea K. Davis; Emily I. Schindler; John S. Beck; Danielle S. Rudd; A. Jason Grundstad; Todd E. Scheetz; Terry A. Braun; John H. Fingert; Wallace L. Alward; Young H. Kwon; James C. Folk; Stephen R. Russell; Thomas H. Wassink; Edwin M. Stone; Val C. Sheffield
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A case of autism and uniparental disomy of chromosome 1NARA Subscribed
Human Genetics · 2005 · Vol. 117 · Issue 2-3 · Springer
Thomas H. Wassink; Molly Losh; Rebecca S. Frantz; Veronica J. Vieland; Rhinda Goedken; Joseph Piven; Val C. Sheffield
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