Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Farwell KD"'
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Krumbach OHF; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy., Amin E; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Nouri K; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Farina L; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy., Dvorsky R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Lepri F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Buchholzer M; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Konopatzki R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Walsh L; Riley Hospital for Children, Indianapolis, IN 46202, USA., Payne K; Riley Hospital for Children, Indianapolis, IN 46202, USA., Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55454, USA; Children's Hospital of Minnesota, Minneapolis, MN 55454, USA., Vergano SS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Langley KG; GeneDX, Gaithersburg, MD 20877, USA., Larsen D; Department of Neurology, Washington University, St. Louis, MO 63130, USA., Farwell KD; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Tang S; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Mroske C; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Gallotta I; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy., Di Schiavi E; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy., Della Monica M; Genetica Medica, Azienda Ospedaliera Universitaria Meyer, 50139 Florence, Italy., Lugli L; Struttura Complessa di Neonatologia, Policlinico di Modena, 41124 Modena, Italy., Rossi C; Genetica Medica, Policlinico S.Orsola-Malpighi, 40138 Bologna, Italy., Seri M; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy., Cocchi G; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy., Henderson L; GeneDX, Gaithersburg, MD 20877, USA., Baskin B; GeneDX, Gaithersburg, MD 20877, USA., Alders M; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Meeks N; Children's Hospital Colorado, Aurora, CO 80045, USA., Brown K; Children's Hospital Colorado, Aurora, CO 80045, USA., Causey T; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23284, USA., Cho MT; GeneDX, Gaithersburg, MD 20877, USA., Demuth S; Praxis für Humangenetik Erfurt, Erfurt 99084, Germany., Digilio MC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany., Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net., Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: gmirzaa@u.washington.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2018 Feb 01; Vol. 102 (2), pp. 309-320. Date of Electronic Publication: 2018 Jan 25.
Autor:
LaDuca H; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Farwell KD; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Vuong H; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Lu HM; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Mu W; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Shahmirzadi L; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Tang S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Chen J; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Bhide S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, United States of America., Chao EC; Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California Irvine, Irvine, California, United States of America.
Publikováno v:
PloS one [PLoS One] 2017 Feb 02; Vol. 12 (2), pp. e0170843. Date of Electronic Publication: 2017 Feb 02 (Print Publication: 2017).
Autor:
Powis Z; Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA., Farwell KD; Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA., Alamillo CL; Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA., Tang S; Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.
Publikováno v:
Journal of human genetics [J Hum Genet] 2016 Feb; Vol. 61 (2), pp. 173-5. Date of Electronic Publication: 2015 Oct 22.
Autor:
White J; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Tang S; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Farwell KD; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Powis Z; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Mendelsohn NJ; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA., Baker JA; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA., Pollack L; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA., Mason KJ; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Arrington DK; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Hall M; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Psychogios A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA., Fairbrother L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA., Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Person RE; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; University of Texas Health Science Center, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA. vrsutton@texaschildrens.org.
Publikováno v:
Genome medicine [Genome Med] 2016 Jan 06; Vol. 8 (1), pp. 3. Date of Electronic Publication: 2016 Jan 06.
Autor:
Capuano A; Department of Translational Research, CRO-IRCCS National Cancer Institute, Aviano, 33081, Italy., Bucciotti F; Department of Translational Research, CRO-IRCCS National Cancer Institute, Aviano, 33081, Italy., Farwell KD; Ambry Genetics, Aliso Viejo, California, 92656., Tippin Davis B; Ambry Genetics, Aliso Viejo, California, 92656., Mroske C; Ambry Genetics, Aliso Viejo, California, 92656., Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, 60201., Weissman SM; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, 60201., Gao Q; NorthShore Research Institute, NorthShore University HealthSystem, Evanston, Illinois, 60201., Spessotto P; Department of Translational Research, CRO-IRCCS National Cancer Institute, Aviano, 33081, Italy., Colombatti A; Department of Translational Research, CRO-IRCCS National Cancer Institute, Aviano, 33081, Italy., Doliana R; Department of Translational Research, CRO-IRCCS National Cancer Institute, Aviano, 33081, Italy.
Publikováno v:
Human mutation [Hum Mutat] 2016 Jan; Vol. 37 (1), pp. 84-97. Date of Electronic Publication: 2015 Nov 04.
Autor:
Farwell KD; Ambry Genetics, Aliso Viejo, California, USA., Shahmirzadi L; Ambry Genetics, Aliso Viejo, California, USA., El-Khechen D; Ambry Genetics, Aliso Viejo, California, USA., Powis Z; Ambry Genetics, Aliso Viejo, California, USA., Chao EC; 1] Ambry Genetics, Aliso Viejo, California, USA [2] Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA., Tippin Davis B; Ambry Genetics, Aliso Viejo, California, USA., Baxter RM; Ambry Genetics, Aliso Viejo, California, USA., Zeng W; Ambry Genetics, Aliso Viejo, California, USA., Mroske C; Ambry Genetics, Aliso Viejo, California, USA., Parra MC; Ambry Genetics, Aliso Viejo, California, USA., Gandomi SK; Ambry Genetics, Aliso Viejo, California, USA., Lu I; Ambry Genetics, Aliso Viejo, California, USA., Li X; Ambry Genetics, Aliso Viejo, California, USA., Lu H; Ambry Genetics, Aliso Viejo, California, USA., Lu HM; Ambry Genetics, Aliso Viejo, California, USA., Salvador D; Ambry Genetics, Aliso Viejo, California, USA., Ruble D; Ambry Genetics, Aliso Viejo, California, USA., Lao M; Ambry Genetics, Aliso Viejo, California, USA., Fischbach S; Ambry Genetics, Aliso Viejo, California, USA., Wen J; Ambry Genetics, Aliso Viejo, California, USA., Lee S; Ambry Genetics, Aliso Viejo, California, USA., Elliott A; Ambry Genetics, Aliso Viejo, California, USA., Dunlop CL; Ambry Genetics, Aliso Viejo, California, USA., Tang S; Ambry Genetics, Aliso Viejo, California, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Jul; Vol. 17 (7), pp. 578-86. Date of Electronic Publication: 2014 Nov 13.
Autor:
Cohen JS; Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland., Srivastava S; Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.; Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland., Farwell KD; Ambry Genetics, 15 Argonaut, Aliso Viejo, California., Lu HM; Ambry Genetics, 15 Argonaut, Aliso Viejo, California., Zeng W; Ambry Genetics, 15 Argonaut, Aliso Viejo, California., Lu H; Ambry Genetics, 15 Argonaut, Aliso Viejo, California., Chao EC; Ambry Genetics, 15 Argonaut, Aliso Viejo, California.; Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, California., Fatemi A; Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.; Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jun; Vol. 167 (6), pp. 1391-5. Date of Electronic Publication: 2015 Apr 02.