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1
المؤلفون: Nicola Brunetti-Pierri, Lucia Micale, Pasquale Piccolo, Giuseppe Merla, Maria Nicla Loviglio
المصدر: Circulation: Cardiovascular Genetics. 5:692-696
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Gene mutation, Diagnosis, Differential, Internal medicine, medicine.artery, Genetics, medicine, Humans, Aorta, Genetics (clinical), Ultrasonography, biology, Vascular disease, business.industry, Syndrome, medicine.disease, Elastin, Aortic Stenosis, Supravalvular, Coronary arteries, medicine.anatomical_structure, Chromosomal region, Cardiology, biology.protein, Cardiology and Cardiovascular Medicine, Haploinsufficiency, business, Supravalvular aortic stenosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1225ca0280aed1d09a021133b07ea04cTest
https://doi.org/10.1161/circgenetics.112.962860Test -
2
المؤلفون: Yvette R. Johnson, Zsolt Urban, Lorraine Potocki, Ron A. Wevers, Pasquale Piccolo, Eva Morava, Megan McGuirk, Megan K. Dishop, Nicola Brunetti-Pierri
المساهمون: BRUNETTI PIERRI, Nicola, Piccolo, P, Morava, E, Wevers, Ra, Mcguirk, M, Johnson, Yr, Urban, Z, Dishop, Mk, Potocki, L.
المصدر: Clinical Dysmorphology, 20, 2, pp. 77-81
Clinical Dysmorphology, 20, 77-81مصطلحات موضوعية: Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Hypertension, Pulmonary, α2 subunit, Neuroinformatics [DCN 3], Cutis Laxa, Oligohydramnios, Article, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Fatal Outcome, Pregnancy, Cryptorchidism, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Fetal Growth Retardation, business.industry, Infant, Newborn, Inelastic skin, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Euthanasia, Passive, Pulmonary hypertension, Molecular analysis, Withholding Treatment, Pediatrics, Perinatology and Child Health, Female, Anatomy, Perception and Action Glycostation disorders [DCN 1], business, Hernia, Umbilical, Cutis laxa
وصف الملف: Print; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ef4ea1e89c3334e7375d9542149979Test
https://doi.org/10.1097/mcd.0b013e3283439676Test