نتائج البحث - "Francesca Furlan"

المساهمون: Bani, M, Russo, S, Raggi, E, Gasperini, S, Motta, S, Menni, F, Furlan, F, Cefalo, G, Paci, S, Banderali, G, Marchisio, P, Biondi, A, Strepparava, M

مصطلحات موضوعية: parents' experience, communication of positivity, Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, Developmental and Educational Psychology, expanded newborn screening, MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, M-PSI/08 - PSICOLOGIA CLINICA, communication proce, information need

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f172962d23553638cd2381dd635f9d
https://hdl.handle.net/10281/408055

5

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

المؤلفون: Giulia Rodella, Uta Matysiak, Jeannette Klein, Anna Sajeva, Natalie Weinhold, Francesca Menni, Christine Wagner, Sara Tucci, Francesca Furlan, Marco Spada, Sarah C. Grünert, Francesco Porta, A. Bordugo, Ute Spiekerkoetter

المصدر: Journal of inherited metabolic diseaseREFERENCES. 44(4)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8019cf8c25970cfb54f971da699adb56
https://pubmed.ncbi.nlm.nih.gov/33580884

View record at Wiley

6

المساهمون: Gestionnaire, HAL Sorbonne Université 5, Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico 'Gaspare Rodolico', Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Clinical Epigenetics
Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩
Clinical Epigenetics, BioMed Central, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Locus (genetics), Homocystinuria, Compound heterozygosity, Methylmalonic aciduria and homocystinuria, 03 medical and health sciences, Secondary epimutation, 0302 clinical medicine, Neonatal Screening, Genetics, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Allele, Molecular Biology, Genetics (clinical), Genetic testing, Epi-cblC, medicine.diagnostic_test, business.industry, Research, cblC disease, Infant, Newborn, Expanded newborn screening (NBS), Peroxiredoxins, DNA Methylation, medicine.disease, MMACHC, Human genetics, 3. Good health, Promoter hypermethylation, Vitamin B 12, 030104 developmental biology, CpG island, cblC type, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, CBLC, business, Oxidoreductases, 030217 neurology & neurosurgery, Metabolism, Inborn Errors, Developmental Biology