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1
المؤلفون: Vikas S, Gupta, Elizabeth C, Popp, Ashley H, Ebanks, Christopher E, Greenleaf, Vidhya, Annavajjhala, Neil, Patel, Daniel K, Robie, Damien J, LaPar, Kevin P, Lally, Matthew T, Harting
المصدر: Pediatric surgery international. 39(1)
مصطلحات موضوعية: Heart Defects, Congenital, Infant, Humans, Birth Weight, Aorta, Thoracic, Hernias, Diaphragmatic, Congenital, Lung, Retrospective Studies
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2
المؤلفون: Lawrence Willis, Matthew T Harting, Ashley H Ebanks, Tim Jancelewicz
المصدر: Journal of the American College of Surgeons. 236:S79-S80
مصطلحات موضوعية: Surgery
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3
المؤلفون: Enrico, Danzer, Matthew T, Harting, Alex, Dahlen, Carmen, Mesas Burgos, Björn, Frenckner, Kevin P, Lally, Ashley H, Ebanks, Krisa P, van Meurs
المصدر: Annals of Surgery.
مصطلحات موضوعية: Surgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5aa426ce9d9b9aabc03681dd17b5766
https://doi.org/10.1097/sla.0000000000005706 -
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المؤلفون: Akila B, Ramaraj, Samuel E, Rice-Townsend, Carrie L, Foster, Delphine, Yung, Emma O, Jackson, Ashley H, Ebanks, Rebecca A, Stark
المصدر: Pediatric surgery international. 38(9)
مصطلحات موضوعية: Hypertension, Pulmonary, Humans, Registries, Hernias, Diaphragmatic, Congenital, Epoprostenol, Retrospective Studies
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5
المؤلفون: Enrico, Danzer, Valerie Y, Chock, Sukyung, Chung, Caroline Y, Noh, Pamela A, Lally, Matthew T, Harting, Kevin P, Lally, Erin E, Perrone, Ashley H, Ebanks, Krisa P, van Meurs
المصدر: Journal of perinatology : official journal of the California Perinatal Association. 42(9)
مصطلحات موضوعية: Extracorporeal Membrane Oxygenation, Pregnancy, Humans, Infant, Female, Hernias, Diaphragmatic, Congenital, Lung Volume Measurements, Lung, Magnetic Resonance Imaging, Ultrasonography, Prenatal, Retrospective Studies
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6
المؤلفون: Kevin P. Lally, Matthew T. Harting, Amir M. Khan, Pamela A. Lally, Ashley H Ebanks, Vikas S. Gupta
المصدر: Journal of Pediatric Surgery. 56:697-699
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Poor prognosis, Cornelia de Lange Syndrome, Birth weight, 03 medical and health sciences, 0302 clinical medicine, De Lange Syndrome, 030225 pediatrics, Humans, Medicine, Contraindication, Retrospective Studies, Cause of death, business.industry, Infant, Congenital diaphragmatic hernia, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Concomitant, Brachmann de Lange syndrome, Pediatrics, Perinatology and Child Health, Surgery, Hernias, Diaphragmatic, Congenital, business
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المؤلفون: Alison Chapman, Kirstin Campbell, Laura E. Hollinger, David J. Annibale, Carrie L. Cormack, Lauren E. Adams, Ashley H. Ebanks
المصدر: Journal of pediatric surgery. 57(9)
مصطلحات موضوعية: Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Birth weight, medicine.medical_treatment, Chromosome Disorders, Emanuel syndrome, Extracorporeal Membrane Oxygenation, Intellectual Disability, medicine, Humans, Supernumerary, Retrospective Studies, Surgical repair, business.industry, Congenital diaphragmatic hernia, Infant, General Medicine, medicine.disease, Pulmonary hypertension, Gastrostomy, Cleft Palate, Concomitant, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Surgery, business, Hernias, Diaphragmatic, Congenital
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المؤلفون: Tim Jancelewicz, Matthew T. Harting, Stephen Stopenski, Ashley H Ebanks, Danh V. Nguyen, Yigit S. Guner, Jennifer Jolley, Peter T. Yu, Carol Major, Tamera Hatfield
المصدر: The Journal of surgical research. 270
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Birth weight, Infant, Newborn, Congenital diaphragmatic hernia, Gestational age, Infant, Gestational Age, Logistic regression, medicine.disease, Severity of Illness Index, Extracorporeal Membrane Oxygenation, Risk Factors, Life support, medicine, Clinical endpoint, Risk of mortality, Humans, Surgery, Risk factor, business, Hernias, Diaphragmatic, Congenital, Retrospective Studies
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المؤلفون: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song
المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3مصطلحات موضوعية: CHROMATIN, Male, 0301 basic medicine, Autism, Sequence Homology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical and Health Sciences, 0302 clinical medicine, SCHIZOPHRENIA, Gene expression, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, de novo variants, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, biology, neurodevelopmental disorders, histone acetylation, Adaptor Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Biological Sciences, Prognosis, Phenotype, Chromatin, Mental Health, Histone, intellectual disability, Child, Preschool, Female, REGULATOR, congenital malformations, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], BRAIN-DEVELOPMENT, Adult, Adolescent, Histone acetyltransferase complex, Intellectual and Developmental Disabilities (IDD), Mutation, Missense, Deciphering Developmental Disorders study, autism spectrum disorder, KAT6B, RNAI SCREEN, Young Adult, 03 medical and health sciences, CAUSES Study, Rare Diseases, Intellectual Disability, Report, COFACTOR, medicine, RUBINSTEIN-TAYBI-SYNDROME, Humans, Amino Acid Sequence, Autistic Disorder, Preschool, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Signal Transducing, Neurosciences, Infant, medicine.disease, TRRAP, Brain Disorders, SELF-RENEWAL, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, biology.protein, Missense, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010 -
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المؤلفون: David A. Lazar, Richard Y. Calvo, Matthew T. Harting, Alicia G. Sykes, Ashley H Ebanks, Romeo C. Ignacio, James M. Prieto, Jeanne Carroll
المصدر: Journal of pediatric surgery. 56(6)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hernia, medicine.medical_treatment, Logistic regression, Enteral administration, Risk Assessment, Risk Factors, medicine, Humans, Derivation, Retrospective Studies, business.industry, Reflux, Infant, Newborn, Congenital diaphragmatic hernia, General Medicine, medicine.disease, Gastrostomy, Logistic Models, Jejunostomy, Pediatrics, Perinatology and Child Health, Surgery, Risk assessment, business, Hernias, Diaphragmatic, Congenital