المؤلفون: Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner

المساهمون: Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan, Clinical Genetics, Neurology

المصدر: Neurology, 98(11), 440-445. Lippincott Williams & Wilkins

مصطلحات موضوعية: Phenotype, Intellectual Disability, Mutation, Migraine with Aura, Syndrome, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb4e8077d58c5414fe73db2ba434859Test
https://doi.org/10.1212/wnl.0000000000013276Test

المؤلفون: Sergio Gradilone, Nicola Brunetti-Pierri, Pasquale Piccolo

المساهمون: Gradilone, Sergio, Brunetti-Pierri, Nicola, Piccolo, Pasquale

المصدر: Current Opinion in Gastroenterology. 38:128-135

مصطلحات موضوعية: Cholangiocarcinoma, MicroRNAs, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, Gastroenterology, Humans, MicroRNA, RNA, Long Noncoding, Bile Duct Neoplasm, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12db77ee63cd291d4612e48740f07f1aTest
https://doi.org/10.1097/mog.0000000000000806Test

المؤلفون: Luca Quagliata, Patrizia Annunziata, Anna Barbato, Sergio Attanasio, Raffaele Castello, Pasquale Piccolo, Annamaria Carissimo, Luigi Terracciano, Nicola Brunetti-Pierri, Leandro Raul Soria

المصدر: Hepatology. 66:124-135

مصطلحات موضوعية: Male, 0301 basic medicine, Genetically modified mouse, Aging, Carcinoma, Hepatocellular, Transgene, Down-Regulation, Mice, Transgenic, Biology, Statistics, Nonparametric, Mice, Random Allocation, 03 medical and health sciences, Liver disease, Downregulation and upregulation, alpha 1-Antitrypsin Deficiency, medicine, Animals, Humans, Transcription factor, Regulation of gene expression, Analysis of Variance, Hepatology, Liver Neoplasms, medicine.disease, Molecular biology, Gene Expression Regulation, Neoplastic, Mice, Inbred C57BL, Disease Models, Animal, Hepatocyte nuclear factors, 030104 developmental biology, medicine.anatomical_structure, Hepatocyte Nuclear Factor 4, Hepatocyte, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b34d1c5fdaa7b384f7dd2bc1b2f34e2aTest
https://doi.org/10.1002/hep.29160Test

المؤلفون: Nicola Brunetti-Pierri, Giancarlo Parenti, Giulia Frisso, Francesco Salvatore, Margherita Ruoppolo, Generoso Andria, Gaetano Terrone, Carla Cozzolino, Alfonso Romano, Emanuela Scolamiero

المساهمون: Terrone, Gaetano, Ruoppolo, Margherita, BRUNETTI PIERRI, Nicola, Cozzolino, C, Scolamiero, E, Parenti, Giancarlo, Romano, A, Andria, G, Salvatore, F, Frisso, Giulia

المصدر: Neurology. 82:e1-e4

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Neurology, Cardiomyopathy, Mitochondrial trifunctional protein deficiency, Hypoglycemia, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Recurrence, Internal medicine, medicine, Humans, Newborn screening, Mitochondrial Trifunctional Protein, business.industry, Incidence (epidemiology), Fatty Acids, 3-Hydroxyacyl CoA Dehydrogenases, Infant, Mitochondrial Myopathies, medicine.disease, Endocrinology, Peripheral neuropathy, Neurology (clinical), Nervous System Diseases, Cardiomyopathies, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46d352753e047a21f3bab665b629ca6Test
https://doi.org/10.1212/01.wnl.0000438217.31437.72Test

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

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, 77-81

مصطلحات 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