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pro vyhledávání: '"Jones, Julie"'
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Autor:
Castelluccio VJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Lynnes T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Jones J; Greenwood Genetic Center, Greenwood, South Carolina., Holloway L; Greenwood Genetic Center, Greenwood, South Carolina., Belonis A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Sapp K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Wilson T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina., Pratt VM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2357-2364. Date of Electronic Publication: 2019 Sep 12.
Autor:
Labonne JD; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; Department of Neuroscience and Regenerative Medicine, Georgia Regents University, Augusta, GA 30912, USA., Chung MJ; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; St Mark's School, 25 Marlboro Road, Southborough, MA 01772, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Anand P; Karlsruhe Institute of Technology (KIT)/University of Karlsruhe (TH), Germany., Wenzel W; Karlsruhe Institute of Technology (KIT)/University of Karlsruhe (TH), Germany., Iacoboni D; Divison of Human Genetics, Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, USA., Layman LC; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; Department of Neuroscience and Regenerative Medicine, Georgia Regents University, Augusta, GA 30912, USA; Neuroscience Program, Medical College of Georgia, Georgia Regents University, Augusta, GA 30912, USA., Kim HG; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; Department of Neuroscience and Regenerative Medicine, Georgia Regents University, Augusta, GA 30912, USA. Electronic address: hkim@gru.edu.
Publikováno v:
Gene [Gene] 2016 Jan 01; Vol. 575 (1), pp. 42-7. Date of Electronic Publication: 2015 Aug 20.
Autor:
Nishimoto HK; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, Augusta, Georgia., Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Sep; Vol. 164A (9), pp. 2172-9. Date of Electronic Publication: 2014 Jul 07.
Autor:
Rojnueangnit K; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Jones JR, Basehore MJ, Robin NH
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 516-21. Date of Electronic Publication: 2013 Dec 05.
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