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

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

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

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

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

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

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

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

المؤلفون: Pinar Bayrak-Toydemir, Francine Blei, Tracey Lewis, Ilona J. Frieden, Dawn H. Siegel, J. Fredrik Grimmer, Joseph T. Shieh, Sheri Mitchell, David A. Stevenson, Denise W. Metry, Beth A. Drolet, Hülya Kayserili

المصدر: American Journal of Medical Genetics Part A. :1363-1367

مصطلحات موضوعية: Genetics, DNA Copy Number Variations, Microarray, Neurocutaneous Syndromes, Haplotype, Chromosome, Locus (genetics), Biology, Article, Aortic Coarctation, Gene mapping, Aldehyde Reductase, Genetic Loci, Nucleotide Transport Proteins, Genetic predisposition, Humans, Eye Abnormalities, Copy-number variation, Disease-causing Mutation, Chromosome Deletion, Chromosomes, Human, Pair 7, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc9cd3203b3da07c8d5466bbf04d237Test
https://doi.org/10.1002/ajmg.a.35341Test

المؤلفون: Gabriele Poindexter, Ilona J. Frieden, A. James Barkovich, Denise W. Metry

المصدر: Pediatric Neurology. 36:402-406

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pituitary Diseases, Coarctation of the aorta, Choristoma, Aortic Coarctation, Angioma, Developmental Neuroscience, Ependyma, medicine, Humans, Endocrine system, Abnormalities, Multiple, Eye Abnormalities, cardiovascular diseases, Craniofacial, Cerebral Cortex, Brain Diseases, business.industry, Vascular disease, Infant, Subependymal gray matter heterotopia, medicine.disease, Magnetic Resonance Imaging, eye diseases, body regions, Eye abnormality, Heterotopia (medicine), Cranial Fossa, Posterior, Neurology, Pediatrics, Perinatology and Child Health, Female, sense organs, Neurology (clinical), Hemangioma, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e163c7a3dd19e93ed52d2ef25b1e49aTest
https://doi.org/10.1016/j.pediatrneurol.2007.01.017Test