MARTELLA, MADDALENA

MARTELLA, MADDALENA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 2000 MURGIA, ALESSANDRAPOLLI RMARTELLA, MADDALENA + RIVISTA ITALIANA DI PEDIATRIA - -
Somatic Mosaicism in von Hippel-Lindau Disease 2000 MURGIA, ALESSANDRAMARTELLA, MADDALENAVINANZI, CINZIAR. POLLIPERILONGO, GIORGIOOPOCHER, GIUSEPPE HUMAN MUTATION - -
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 2010 POLLI RMARTELLA MBUSANA CLEONARDI, EMANUELAANDREOLI WTOSATTO S. C. EMURGIA A. + - - Società italiana di Genetica Umana SIGU 2010
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population 2011 LEONARDI, EMANUELAMARTELLA, MADDALENATOSATTO, SILVIOMURGIA, ALESSANDRA ANNALS OF HUMAN GENETICS - -
Association between a combination of single nucleotide polymorphisms and large vessel cerebral vasculopathy in African children with sickle cell disease 2016 Martella M.Quaglia N.Frigo A. C.Colombatti R. + BLOOD CELLS, MOLECULES, & DISEASES - -
Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action 2019 Colombatti, RaffaellaMartella, MaddalenaViola, GiampietroBERGAMO, CHIARASchiavon, SaraBaraldi, EugenioDalla Barba, BeatriceBasso, GiuseppeSainati, Laura + PEDIATRIC BLOOD & CANCER - -
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease 2019 Martella, MaddalenaViola, GiampietroSCHIAVON, SARABasso, GiuseppeColombatti, RaffaellaSainati, Laura + INTERNATIONAL JOURNAL OF NEONATAL SCREENING - -
Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection 2021 Tretti C.Martella M.Biffi A.Marzollo A.Bresolin S. + NEONATOLOGY - -
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature 2021 Marzollo A.Natalucci C. T.Martella M.Biffi A.Bresolin S. + JOURNAL OF CLINICAL IMMUNOLOGY - -
Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening 2022 Martella, MaddalenaCampeggio, MimmaMenzato, FedericaMunaretto, VaniaViola, GiampietroReggiani, GiuliaSainati, LauraColombatti, Raffaella + FRONTIERS IN PEDIATRICS - -