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1Academic Journal
المؤلفون: PECCI A, PANZA E, PUJOL MOIX N, KLERSY C, DI BARI F, BOZZI V, GRESELE P, LETHAGEN S, FABRIS F, DUFOUR C, GRANATA A, DOUBEK M, PECORARO C, KOIVISTO PA, HELLER PG, IOLASCON A, ALVISI P, SCHWABE D, DE CANDIA E, ROCCA B, RUSSO U, RAMENGHI U, NORIS P, SERI M, BALDUINI CL, SAVOIA, ANNA
المساهمون: Pecci, A, Panza, E, PUJOL MOIX, N, Klersy, C, DI BARI, F, Bozzi, V, Gresele, P, Lethagen, S, Fabris, F, Dufour, C, Granata, A, Doubek, M, Pecoraro, C, Koivisto, Pa, Heller, Pg, Iolascon, A, Alvisi, P, Schwabe, D, DE CANDIA, E, Rocca, B, Russo, U, Ramenghi, U, Noris, P, Seri, M, Balduini, Cl, Savoia, Anna
مصطلحات موضوعية: gene MYH9, miosina nonmuscolare IIA, anomalia di May-Hegglin, sindrome di Sebastian, sindrome di Fechtner, sindrome di Epstein
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/18059020; info:eu-repo/semantics/altIdentifier/wos/WOS:000253837300010; volume:29; issue:3; firstpage:409; lastpage:417; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/11562/1064488; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-40549091624
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المؤلفون: Nuria Pujol-Moix, Carmine Pecoraro, Paula G. Heller, Paolo Gresele, Filomena Di Bari, Carlo Dufour, Erica De Candia, Michael Doubek, Patrizia Noris, Pasi A. Koivisto, Marco Seri, Stefan Lethagen, Patrizia Alvisi, Umberto Russo, Carlo L. Balduini, Ugo Ramenghi, Achille Iolascon, Dirk Schwabe, Valeria Bozzi, Anna Savoia, Alessandro Pecci, Bianca Rocca, Catherine Klersy, Antonio Granata, Emanuele Panza, Fabrizio Fabris
المساهمون: Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A., Pecci, A, Panza, E, PUJOL MOIX, N, Klersy, C, DI BARI, F, Bozzi, V, Gresele, P, Lethagen, S, Fabris, F, Dufour, C, Granata, A, Doubek, M, Pecoraro, C, Koivisto, Pa, Heller, Pg, Iolascon, A, Alvisi, P, Schwabe, D, DE CANDIA, E, Rocca, B, Russo, U, Ramenghi, U, Noris, P, Seri, M, Balduini, Cl, Savoia, Anna, Pujol Moix, N, Di Bari, F, Iolascon, Achille, De Candia, E, Savoia, A.
مصطلحات موضوعية: Male, sindrome di Fechtner, Presenile cataracts, MYH9-RELATED DISEASE, Kaplan-Meier Estimate, Medicina Clínica, anomalia di May-Hegglin, medicine.disease_cause, Gastroenterology, MYH9, Sebastian syndrome, MUTATION, Genetics (clinical), gene MYH9, Genes, Dominant, Genetics, Mutation, Nephritis, sindrome di Sebastian, Fechtner syndrome, Molecular Motor Proteins, Syndrome, Middle Aged, Phenotype, Female, Adult, medicine.medical_specialty, May-Hegglin anomaly, CIENCIAS MÉDICAS Y DE LA SALUD, Genotype, Hearing Loss, Sensorineural, Biology, Cataract, nonmuscle myosin IIA, miosina nonmuscolare IIA, sindrome di Epstein, Cataracts, Internal medicine, medicine, Humans, Hematología, Survival analysis, INHERITED THROMBOCYTOPENIA, Myosin Heavy Chains, Platelet Count, Infant, medicine.disease, Thrombocytopenia, Protein Structure, Tertiary, Epstein Syndrome, MYH9 GENE, Epstein syndrome, May–Hegglin anomaly
وصف الملف: ELETTRONICO; application/pdf; STAMPA