Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Scimone ER"'
Autor:
Lin AE; Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Scimone ER; Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Thom RP; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Balaguru D; Pediatric Cardiology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Kinane TB; Pediatric Pulmonary and Sleep Medicine, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Moschovis PP; Pediatric Pulmonary and Sleep Medicine, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Cohen MS; Pediatric Otorhinolaryngology, Massachusetts Eye and Ear, Boston, Massachusetts, USA., Tan W; Pediatric Nephrology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Hague CD; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Dannheim K; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA., Levitsky LL; Pediatric Endocrinology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Lilly E; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA., DiGiacomo DV; Division of Rheumatology, Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Masse KM; Department of Physical Therapy, Massachusetts General Hospital, Boston, Massachusetts, USA., Kadzielski SM; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Pediatric Gastroenterology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Zar-Kessler CA; Pediatric Gastroenterology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Ginns LC; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Neumeyer AM; Lurie Center for Autism, Mass General for Children, Boston, Massachusetts, USA.; Pediatric Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Colvin MK; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA., Elder JS; Division of Pediatric Urology, Department of Urology, Massachusetts General Hospital, Boston, Massachusetts, USA., Learn CP; Division of Cardiology, Department of Medicine, Corrigan Minehan Heart Center, Adult Congenital Heart Disease, Massachusetts General Hospital, Boston, Massachusetts, USA., Mou H; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA., Weagle KM; Department of Child Life, Pediatric Imaging Program, Massachusetts General Hospital, Boston, Massachusetts, USA., Buch KA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Alhadid K; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Musolino PL; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Sultana S; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bandyopadhyay D; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Rapalino O; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Peacock ZS; Oral and Maxillofacial Surgery, Massachusetts General Hospital and Harvard School of Dental Medicine, Boston, Massachusetts, USA., Chou EL; Division of Vascular and Endovascular Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA., Heidary G; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA., Dorfman AT; Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Morris SA; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Bergin JD; Division of Cardiology, Department of Medicine, University of Virginia, Charlottesville, Virginia, USA., Rayment JH; Respiratory Medicine, Department of Pediatrics, British Columbia Children's Hospital and University of British Columbia, Vancouver, British Columbia, Canada., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Department of Otorhinolaryngology, Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Lindsay ME; Pediatric Cardiology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Pediatric Cardiology, Department of Pediatrics, Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63638. Date of Electronic Publication: 2024 May 23.
Autor:
Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.
Autor:
Lindsay ME; Cardiovascular Genetics Program, Massachusetts General Hospital, Boston, Mass; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Boston, Mass., Scimone ER; Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Mass., Lawton J; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Boston, Mass., Richa R; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Boston, Mass., Yonker LM; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass., Di YP; Department of Environmental and Occupational Health, University of Pittsburgh, Pittsburgh, Pa., Buch K; Department of Radiology, Massachusetts General Hospital, Boston, Mass., Ouyang W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Ga., Mo X; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Ga., Lin AE; Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Mass., Mou H; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass. Electronic address: hmou@mgh.harvard.edu.
Publikováno v:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Sep 05. Date of Electronic Publication: 2024 Sep 05.
Autor:
Wood KA; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Tong RS; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Motta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Scimone ER; Medical Genetics, Mass General Brigham, Harvard Medical School, Harvard University, Boston, MA 02114, USA., Bush SJ; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Maxwell DW; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; School of Clinical Medicine, St Vincent's Healthcare Clinical Campus, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia., Caputo V; Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy., Traversa A; Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Ferrero GB; Department of Clinical and Biological Science, University of Torino, 10126 Turin, Italy., Benedicenti F; Genetic Counseling Service, Regional Hospital of Bolzano, 39100 Bolzano, Italy., Grammatico P; Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00152 Rome, Italy., Melis D; Department of Medicine, Surgery and Dentistry, University of Salerno, 84081 Salerno, Italy., Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Trevisson E; Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy., Wilkie AO; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Lin AE; Medical Genetics, Mass General Brigham, Harvard Medical School, Harvard University, Boston, MA 02114, USA., Cormier-Daire V; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France., Twigg SR; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Goriely A; MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK. Electronic address: anne.goriely@imm.ox.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Sep 05; Vol. 111 (9), pp. 1953-1969. Date of Electronic Publication: 2024 Aug 07.
Autor:
Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1086-1094. Date of Electronic Publication: 2024 Jul 12.
Autor:
Gheewalla GM; Tufts University School of Medicine, Boston, Massachusetts, USA.; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Mass General Brigham, Boston, Massachusetts, USA.; Pediatric Cardiology Division, Department of Pediatrics, Mass General Brigham, Boston, Massachusetts, USA., Luther J; Division of Gastroenterology, Department of Internal Medicine, MGB Alcohol Liver Center, Mass General Brigham, Boston, Massachusetts, USA., Das S; Department of Medicine, Cardiovascular Research Center, Mass General Brigham, Boston, Massachusetts, USA., Kreher JB; Division of Pediatric Orthopaedics, Department of Orthopaedics, Mass General Brigham, Boston, Massachusetts, USA., Scimone ER; Department of Pediatrics, Genetics Unit, Mass General Brigham for Children, Boston, Massachusetts, USA., Wong AW; Department of Pediatrics, Genetics Unit, Mass General Brigham for Children, Boston, Massachusetts, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Mass General Brigham, Boston, Massachusetts, USA.; Pediatric Cardiology Division, Department of Pediatrics, Mass General Brigham, Boston, Massachusetts, USA., Lin AE; Department of Pediatrics, Genetics Unit, Mass General Brigham for Children, Boston, Massachusetts, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3084-3088. Date of Electronic Publication: 2022 Jul 23.