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1
المؤلفون: Francine Blei, Beth A. Drolet, Ilona J. Frieden, Maria‐Laura Cossio, Maria C. Garzon, Julie Powell, Mohit Maheshwari, Dawn H. Siegel, Denise W. Metry, Olivia M. T. Davies, Christine T. Lauren, Nicole S. Stefanko, Catherine McCuaig, Sumaiya S. Salman
المصدر: Pediatric Dermatology. 36:618-622
مصطلحات موضوعية: Adult, Male, Infertility, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Dermatology, Aortic Coarctation, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Recall bias, Health care, medicine, Humans, Eye Abnormalities, Response rate (survey), business.industry, Neurocutaneous Syndromes, Age Factors, Middle Aged, medicine.disease, Natural history, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Cohort, Female, Symptom Assessment, medicine.symptom, Headaches, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5833f7825979df7126d57add13eee3eTest
https://doi.org/10.1111/pde.13871Test -
2
المؤلفون: George W. Niedt, Maria C. Garzon, Francine Blei, Dawn H. Siegel, Denise W. Metry, Juan Carlos López-Gutiérrez, Deborah S. Goddard, Christine T. Lauren, Kimberly D. Morel, Carol J. MacArthur, Olayemi Sokumbi, Beth A. Drolet, Maria Jose Beato, Sameera Husain, Renee Howard, Eloise R. Galligan, Nicole S. Stefanko, Olivia M. T. Davies, Ilona J. Frieden, Janet A. Fairley
المصدر: Pediatric dermatologyREFERENCES. 37(1)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Skin Neoplasms, Hamartoma, Dermatology, Nervous System Malformations, Aortic Coarctation, Congenital Abnormalities, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Lumbar, Fibrosis, medicine, Pericardium, Fibroepithelial Polyp, Humans, Abnormalities, Multiple, Eye Abnormalities, Retrospective Studies, business.industry, Neurocutaneous Syndromes, Infant, PELVIS syndrome, Syndrome, medicine.disease, Chin, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Folliculosebaceous cystic hamartoma, Female, Midline cervical cleft, business, Hemangioma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7ea98672ea8b560ca4201af3ce2c00Test
https://pubmed.ncbi.nlm.nih.gov/31631401Test -
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المؤلفون: Denise W. Metry, Jack E. Steiner, Mohit Maheshwari, William B. Dobyns, Garrett N. McCoy, Beth A. Drolet, Dawn H. Siegel, Christopher P. Hess
المصدر: American journal of medical genetics. Part A, vol 176, iss 1
مصطلحات موضوعية: Male, Pituitary gland, Congenital, 0302 clinical medicine, magnetic resonance imaging, Medicine, Eye Abnormalities, Cerebellar hypoplasia, Genetics (clinical), Pediatric, PHACE syndrome, screening and diagnosis, Neurocutaneous Syndromes, medicine.diagnostic_test, pituitary gland, Brain, Magnetic Resonance Imaging, Detection, Phenotype, medicine.anatomical_structure, Pituitary Gland, Neurological, Optic nerve, Biomedical Imaging, Female, Radiology, Abnormalities, Multiple, medicine.medical_specialty, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, brain malformations, Fourth ventricle, Article, Aortic Coarctation, 03 medical and health sciences, Rare Diseases, Neuroimaging, Clinical Research, 030225 pediatrics, Internal medicine, Genetics, Humans, Abnormalities, Multiple, business.industry, Neurosciences, Infant, Newborn, Meninges, Infant, Magnetic resonance imaging, Newborn, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Orphan Drug, Endocrinology, Congenital Structural Anomalies, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b39166a2ae336157b556135b1d4ab59Test
https://doi.org/10.1002/ajmg.a.38523Test -
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المؤلفون: Eulalia Baselga, Kimberly A. Horii, Denise W. Metry, Julie Powell, M. Rosa Cordisco, Beth A. Drolet, Amy J. Nopper, Catherine McCuaig, Anita N. Haggstrom, Anne W. Lucky, Kimberly D. Morel, Ilona J. Frieden, Denise M. Adams, M. Fernanda Greco, Mary Sue Wentzel, Sarah L. Chamlin, Alfons Krol, Dawn H. Siegel, Maria C. Garzon, Anthony J. Mancini
المصدر: PEDIATRIC DERMATOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, medicine.medical_specialty, Concordance, Gestational Age, Dermatology, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Pregnancy, 030225 pediatrics, Diseases in Twins, Birth Weight, Humans, Medicine, Prospective Studies, Prospective cohort study, Discordant Twin, business.industry, Obstetrics, Infant, Newborn, Gestational age, Odds ratio, Zygosity, Pediatrics, Perinatology and Child Health, Cohort, Female, Hemangioma, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485c60ebcf129388c902462433a09fc9Test
https://doi.org/10.1111/pde.12781Test -
5
المؤلفون: JiaDe Yu, Denise W. Metry, Geoffrey L. Heyer, Beth A. Drolet, Leon G. Epstein, Dawn H. Siegel, Francine Blei
المصدر: Journal of Child Neurology. 31:468-473
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Photophobia, Coarctation of the aorta, Aortic Coarctation, Article, Hemangioma, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, 030225 pediatrics, Prevalence, medicine, Humans, Family, Eye Abnormalities, Registries, Age of Onset, Child, business.industry, Neurocutaneous Syndromes, Headache, Infant, medicine.disease, Cross-Sectional Studies, Phonophobia, Migraine, Child, Preschool, Pediatrics, Perinatology and Child Health, Vomiting, Female, Neurology (clinical), Headaches, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e3d0173df6b3c11563bd7da31a5762Test
https://doi.org/10.1177/0883073815599261Test -
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المؤلفون: Asunción Vicente, Christine Léauté-Labrèze, Hannah M Bombei, Eleonore Pairet, Laurence M. Boon, Carle Paul, David G. Brooks, Ilona J. Frieden, Anne M. Turner, Reed E. Pyeritz, Miikka Vikkula, Raphaël Helaers, David J. Amor, Juliette Dupont, Malin Kvarnung, Marcia C. Willing, Mustapha Amyere, Josée Dubois, Annouk Bisdorff, Shoji Watanabe, Denise W. Metry, Philippe Parent, Loreto Martorell, A. Phan, Ashley Wilson, Orli Wargon, John B. Mulliken, Aicha Salhi, Anne Dompmartin, Catherine McCuaig, Francine Blei, Pierre Vabres, Louanne Hudgins, Eulalia Baselga, María Antonia González-Enseñat, Marion Gérard, Isabelle Quéré, Andrea Hanson-Kahn, Maria R. Cordisco, Nicole Revencu, Wendy K. Chung, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Lisa Weibel, Florence Petit
المساهمون: Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Catholique de Louvain = Catholic University of Louvain (UCL)
المصدر: Circulation
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Circulation, American Heart Association, 2017, 136 (11), pp.1037-1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, MAP Kinase Signaling System, Port-Wine Stain, Receptor, EphB4, arteriovenous malformation, P120 GTPase Activating Protein, Genome-wide association study, Biology, Germline, capillary, Arteriovenous Malformations, 03 medical and health sciences, Germline mutation, Physiology (medical), Databases, Genetic, medicine, Humans, Missense mutation, genetics, arteriovenous fistula, Germ-Line Mutation, Loss function, Genetics, vascular endothelial function, venous, p120 GTPase Activating Protein, Arteriovenous malformation, vascular disease, medicine.disease, Capillaries, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Cardiology and Cardiovascular Medicine, linkage, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1251887ddfadee32b56bad98e2b76c1Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12677Test -
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المؤلفون: Anita N. Haggstrom, Beth A. Drolet, Francine Blei, Maria C. Garzon, Alfons Krol, Judith M.A. Verhagen, Denise W. Metry, Joy Wan, Dawn H. Siegel, Deborah S. Goddard, Ilona J. Frieden, Orli Wargon, Eulalia Baselga, Maria Cordisco, Kimberly D. Morel, Jack E. Steiner
المساهمون: Clinical Genetics
المصدر: JOURNAL OF PEDIATRICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Pediatrics, 190, 275-279. Mosby Inc.مصطلحات موضوعية: Male, medicine.medical_specialty, Population, Placenta Previa, Disease pathogenesis, Aortic Coarctation, Article, Hemangioma, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, Risk Factors, 030225 pediatrics, medicine, Humans, Clinical registry, Eye Abnormalities, Registries, Significant risk, education, reproductive and urinary physiology, Gynecology, education.field_of_study, Obstetrics, business.industry, Neurocutaneous Syndromes, Infant, Newborn, Prenatal Care, medicine.disease, United States, Placenta previa, Cross-Sectional Studies, Prenatal risk, Pediatrics, Perinatology and Child Health, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f05c1e8511e7d2fc7eefb6b7f736470Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=6015Test -
8
المؤلفون: Alfons Krol, Joseph T. Shieh, Johannes M.P.J. Breur, Kristen E. Holland, Michelle L. Bayer, Kimberly D. Morel, Mohit Maheshwari, Beth A. Drolet, James F. Southern, Francine Blei, Elena Pope, Ilona J. Frieden, Peter C. Frommelt, Maria R. Cordisco, Dawn H. Siegel, Paula E. North, Deborah S. Goddard, Denise W. Metry, Orli Wargon
المصدر: The American journal of cardiology, vol 112, iss 12
مصطلحات موضوعية: Male, Aortic arch, Heart disease, Thoracic, Aorta, Thoracic, Comorbidity, Cardiorespiratory Medicine and Haematology, Cardiovascular, Subclavian Vein, Intracardiac injection, Congenital, 2.1 Biological and endogenous factors, Medicine, Eye Abnormalities, Registries, Aetiology, Head and neck, Aorta, Brachiocephalic Trunk, Heart Defects, Pediatric, screening and diagnosis, Neurocutaneous Syndromes, Magnetic Resonance Imaging, Midline defects, Detection, Heart Disease, Cardiology, Female, Cardiology and Cardiovascular Medicine, 4.2 Evaluation of markers and technologies, Heart Defects, Congenital, medicine.medical_specialty, Article, Aortic Coarctation, Hemangioma, Rare Diseases, Clinical Research, Internal medicine, medicine.artery, Humans, In patient, Vascular Patency, Subclavian artery, Retrospective Studies, business.industry, medicine.disease, Cardiovascular System & Hematology, Congenital Structural Anomalies, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b489fcffeb27169fac003edf63645603Test
https://doi.org/10.1016/j.amjcard.2013.08.025Test -
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المؤلفون: E.Y. Strawn, Denise W. Metry, M.E. Kim, Beth A. Drolet, Dawn H. Siegel, Yvonne E. Chiu, M. Cancel
المصدر: British Journal of Dermatology. 177:e90-e91
مصطلحات موضوعية: Male, 0301 basic medicine, Infertility, medicine.medical_specialty, medicine.medical_treatment, MEDLINE, Fertilization in Vitro, Dermatology, Abortion, Article, Aortic Coarctation, Miscarriage, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Eye Abnormalities, Registries, Maternal history, 030219 obstetrics & reproductive medicine, Neurocutaneous Syndromes, In vitro fertilisation, business.industry, Obstetrics, Female infertility, Infant, medicine.disease, United States, Abortion, Spontaneous, 030104 developmental biology, Female, business, Infertility, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c9952a63912f4d05bff3cf1cbb93b1Test
https://doi.org/10.1111/bjd.15341Test -
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المؤلفون: Michelle L. Bayer, Lisa M. Nassif, Christopher P. Hess, Ilona J. Frieden, A. James Barkovich, Beth A. Drolet, Jennifer Tangtiphaiboontana, Heather J. Fullerton, Denise W. Metry
المصدر: Journal of child neurology, vol 28, iss 5
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Language delay, Intellectual and Developmental Disabilities (IDD), Developmental Disabilities, Clinical Sciences, Aortic Coarctation, Speech Disorders, Cohort Studies, Rare Diseases, Clinical Research, Fine Motor Delay, medicine, Humans, Language Development Disorders, Eye Abnormalities, Preschool, Child, Prospective cohort study, neurodevelopmental abnormalities, Retrospective Studies, Pediatric, Neurologic Examination, PHACE syndrome, Neurology & Neurosurgery, business.industry, Neurocutaneous Disorder, Neurocutaneous Syndromes, Neurosciences, Infant, Retrospective cohort study, brain structural abnormalities, Gross Motor Delay, retrospective analysis, cerebrovascular disease, Brain Disorders, Motor Skills Disorders, Child, Preschool, Neurological, Pediatrics, Perinatology and Child Health, Cohort, Cognitive Sciences, Ataxia, Female, Neurology (clinical), business, Cohort study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852a8754af4704f0258e38184e6ac8faTest
https://doi.org/10.1177/0883073812450073Test