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المؤلفون: CORSELLO, Giovanni, MAGGIO, Maria Cristina, LAGALLA, L, SERRAINO, F
المساهمون: CORSELLO, G, LAGALLA, L, SERRAINO, F, MAGGIO, MC
مصطلحات موضوعية: PUBERTA’ PRECOCE, Settore MED/38 - Pediatria Generale E Specialistica, SINDROME DI COSTELLO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3658::1c31c0b8804b099c645eb2f94936201e
http://hdl.handle.net/10447/115941 -
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المؤلفون: Caroline Nava, Giovanni Neri, Louise C. Wilson, Shigeru Tsuchiya, Yoko Narumi, Nobuhiko Okamoto, Hirofumi Ohashi, Hélène Cavé, Kiyoko Sameshima, Etsuro Ito, Alain Verloes, Raoul C.M. Hennekam, Pablo Lapunzina, Yoshio Makita, Yoko Aoki, Kumi Kato, Tetsuya Niihori, Dagmar Wieczorek, Yoichi Matsubara, Gabriele Gillessen-Kaesbach, Ikuko Kondo, Kenji Kurosawa, Maria Ines Kavamura, Shigeo Kure
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics
المصدر: American journal of medical genetics. Part A, 143A(8), 799-807. Wiley-Liss Inc.
مصطلحات موضوعية: Heart Defects, Congenital, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Genotype, DNA Mutational Analysis, MAP Kinase Kinase 2, MAP Kinase Kinase 1, MAP2K2, Cardiofaciocutaneous syndrome, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Diagnosis, Differential, Costello syndrome, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, HRAS, neoplasms, Genetics (clinical), Molecular Epidemiology, sindrome di Costello, genetica clinica, business.industry, sindrome CFC, Syndrome, medicine.disease, Dermatology, Osteochondrodysplasia, digestive system diseases, PTPN11, Phenotype, Endocrinology, Case-Control Studies, Skin Abnormalities, ras Proteins, Noonan syndrome, KRAS, business, Signal Transduction
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3مورد إلكتروني
مصطلحات الفهرس: sindrome CFC, sindrome di Costello, genetica clinica, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10807/15734
issue:143
firstpage:799
lastpage:807
numberofpages:9
issueyear:2007
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A