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1دورية أكاديمية
المؤلفون: Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
المصدر: Genes, Vol 14, Iss 3, p 549 (2023)
مصطلحات موضوعية: capillary malformation-arteriovenous malformation (CM-AVM), RASA1, prenatal findings, polyhydramnios, non-immune fetal hydrops, chylothorax, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 7, p 962 (2021)
مصطلحات موضوعية: KATNB1, lissencephaly 6, microcephaly, FAT1, microphthalmia, preaxial polydactyly, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Tiziana Galeazzi, Lucia Santoro, Simonetta Rosato, Lucia Padella, S. Pedori, Giancarlo Gargano, Livia Garavelli, Ivan Ivanovski, Lucia Zampini, Chiara Gelmini, Silvia Braibanti, Anita Wischmeijer, Sergio Bernasconi, Andrea Superti-Furga, Andrea Ballabio, Stefano Pepe, Orazio Gabrielli, Lorenzo Iughetti, Nives Melli, Daniele Frattini, Alexandra Iori
المساهمون: Garavelli, L, Santoro, L, Iori, A, Gargano, G, Braibanti, S, Pedori, S, Melli, N, Frattini, D, Zampini, L, Galeazzi, T, Padella, L, Pepe, S, Wischmeijer, A, Rosato, S, Ivanovski, I, Iughetti, L, Gelmini, C, Bernasconi, S, Superti Furga, A, Ballabio, Andrea, Gabrielli, O.
المصدر: Italian journal of pediatrics, vol. 40, pp. 86
Italian Journal of Pediatricsمصطلحات موضوعية: medicine.medical_specialty, Multiple Sulfatase Deficiency Disease, DNA Mutational Analysis, Case Report, medicine.disease_cause, Compound heterozygosity, MSD, Multiple sulfatase deficiency, Internal medicine, medicine, SUMF1 Gene, Humans, Oxidoreductases Acting on Sulfur Group Donors, DNA/genetics, Female, Infant, Newborn, Multiple Sulfatase Deficiency Disease/genetics, Mutation, Sulfatases/genetics, business.industry, DNA, SUMF1 gene, medicine.disease, Sphingolipid, Hypotonia, Endocrinology, Inborn error of metabolism, medicine.symptom, Sulfatases, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47bc020478d39f849891db3a07597953
https://hdl.handle.net/11380/1066039 -
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المؤلفون: Giovanni Neri, Andrea Superti-Furga, Maria Grazia Pomponi, Annick Toutain, Elena Andreucci, Chiara Gelmini, Nives Melli, Giancarlo Gargano, Silvia Braibanti, Anita Wischmeijer, Francesca Forzano, Simonetta Rosato, Livia Garavelli, Graziella Simonte, Roberta Pietrobono
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Heart Defects, Congenital, Male, Nails, Malformed, Ribs, Settore MED/03 - GENETICA MEDICA, Gigantism, Fingers, Glypicans, Intellectual Disability, Genetics, Medicine, Humans, Supernumerary, Genetics (clinical), Simpson Golabi Behmel Syndrome Type 1, Polydactyly, business.industry, Infant, Newborn, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Anatomy, Simpson–Golabi–Behmel syndrome, Index finger, medicine.disease, Hypoplasia, Pedigree, medicine.anatomical_structure, Nail (anatomy), Simpson-Golabi-Behmel, Female, business, Finger syndactyly, Gene Deletion, Infant, Premature
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