Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Saadeh-Haddad R"'
Autor:
Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA., Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu., Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA., Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria., Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France., Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France., Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Warshaw D; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Janssen PM; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1188-1189.
Autor:
Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chassevent A; Department of Neurogenetics, The Kennedy Krieger Institute, Baltimore, Maryland, USA., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital 'Lozano Blesa', School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain., Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital 'Lozano Blesa', School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain., Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital 'Lozano Blesa', School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain., McWalter K; GeneDx Inc., Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx Inc., Gaithersburg, Maryland, USA., Cui H; GeneDx Inc., Gaithersburg, Maryland, USA., Saadeh-Haddad R; Division of Genetics, MedStar Georgetown University Hospital Department of Pediatrics, Washington, District of Columbia, USA., Smith-Hicks C; Departments of Neurology and Neurogenetics, The Kennedy Krieger Institute, Baltimore, Maryland, USA., Rodan L; Division of Genetics and Genomics and Division of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Blair E; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK., Bhoj E; Children's Hospital of Philadelphia, Division of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 571-576. Date of Electronic Publication: 2020 Oct 12.
Autor:
Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA., Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu., Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA., Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria., Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France., Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France., Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Warshaw DM; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Janssen PML; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 293-310. Date of Electronic Publication: 2020 Jul 23.
Autor:
Culjat M; MedStar Georgetown University Hospital Neonatal-Perinatal Medicine Washington DC USA., Razak J; Division of Maternal Fetal Medicine Sibley Memorial Hospital Washington DC USA., Saadeh-Haddad R; Department of Pediatrics MedStar Georgetown University Hospital Washington DC USA., Driggers R; Division of Maternal Fetal Medicine Sibley Memorial Hospital Washington DC USA.; Division of Maternal Fetal Medicine Johns Hopkins School of Medicine Baltimore MD USA., Kamholz K; MedStar Georgetown University Hospital Neonatal-Perinatal Medicine Washington DC USA., Timofeev J; Division of Maternal Fetal Medicine Sibley Memorial Hospital Washington DC USA.; Division of Maternal Fetal Medicine Johns Hopkins School of Medicine Baltimore MD USA.
Publikováno v:
Clinical case reports [Clin Case Rep] 2018 Jun 21; Vol. 6 (8), pp. 1525-1530. Date of Electronic Publication: 2018 Jun 21 (Print Publication: 2018).
Akademický článek
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Autor:
Wang, Xi1,2 (AUTHOR), Kong, Chang1,3 (AUTHOR), Liu, Pan1,2 (AUTHOR), Geng, Wujun1,2 (AUTHOR), Tang, Hongli1,2 (AUTHOR)
Publikováno v:
Disease Markers. 6/9/2022, p1-11. 11p.
Autor:
Xu, Amy L., Suresh, Krishna V., Gomez, Jaime A., Emans, John B., Larson, A. Noelle, Cahill, Patrick J., Andras, Lindsay M., White, Klane K., Miller, Daniel J., Murphy, Joshua S., Groves, Mari L., Belzberg, Allan J., Hwang, Steven W., Rosser, Tena L., Staedtke, Verena, Ullrich, Nicole J., Sato, Aimee A., Blakeley, Jaishri O., Schorry, Elizabeth K., Gross, Andrea M.
Publikováno v:
Journal of Pediatric Orthopaedics; Aug2023, Vol. 43 Issue 7, pe531-e537, 7p
Autor:
Matei, L.1, Teodorescu, M. I.1, Kozma, A.1 dr.ka.mailbox@gmail.com, Iordan Dumitru, A. D.2, Stoicescu, S. M.3,4, Carniciu, S.5
Publikováno v:
Acta Endocrinologica (1841-0987). Oct-Dec2019, Vol. 15 Issue 4, p526-530. 5p.
Publikováno v:
Journal of Pediatric Orthopaedics B; Nov2022, Vol. 31 Issue 6, p572-582, 11p
Autor:
Suresh KV; Departments of Orthopaedic Surgery., Xu AL; Departments of Orthopaedic Surgery., Groves ML; Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Sponseller PD; Departments of Orthopaedic Surgery.
Publikováno v:
Journal of pediatric orthopedics. Part B [J Pediatr Orthop B] 2022 Nov 01; Vol. 31 (6), pp. 572-582. Date of Electronic Publication: 2022 Feb 07.