GASPARINI, PAOLO

GASPARINI, PAOLO  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Settore MED/03 - Genetica Medica  

Docenti di ruolo di Ia fascia  

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Risultati 1 - 20 di 472 (tempo di esecuzione: 0.104 secondi).
Titolo Data di pubblicazione Autori File
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 1-gen-2017 COCCA, MASSIMILIANOD'ADAMO, ADAMO PIOGASPARINI, PAOLOGIROTTO, GIORGIAPISTIS, GIORGIOROBINO, ANTONIETTAULIVI, SHEILAVUCKOVIC, DRAGANA +
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference 1-gen-2018 Fabretto, AntonellaPecile, VannaGasparini, PaoloCarrozzi, Marco +
52 genetic loci Influencing myocardial mass 1-gen-2016 SINAGRA, GIANFRANCOGASPARINI, PAOLO +
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. 1-gen-2002 GASPARINI, PAOLO +
"A comparative analysis of different membranes in DNA transfer and hybridization procedures" 1-gen-1988 GASPARINI, PAOLO +
"A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation" 1-gen-1992 GASPARINI, PAOLO +
"A frequent polymorphism in the 5' region of BCMA gene" 1-gen-1997 GASPARINI, PAOLO +
"A gene for premature ovarian failure associated with eyelid malformations maps to chromosome 3q22-q23" 1-gen-1996 GASPARINI, PAOLO +
A general approach for haplotype phasing across the full spectrum of relatedness. 1-gen-2014 PIRASTU, NicolaCOCCA, MASSIMILIANOTRAGLIA, MICHELAGASPARINI, PAOLO +
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. 1-gen-2013 PIRASTU, NicolaD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A Meta-Analysis of Genome-Wide Association Studies of the Electrocardiographic Early Repolarization Pattern. 1-gen-2012 GASPARINI, PAOLOSINAGRA, GIANFRANCO +
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 1-gen-2000 GASPARINI, PAOLOSAVOIA, ANNA +
"A new complex polymorphic repeat close to the HLA-A and HLA-E loci" 1-gen-1994 GASPARINI, PAOLO +
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 1-gen-2003 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 1-gen-2012 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta 1-gen-2014 MORGAN, ANNAGASPARINI, PAOLO +
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 1-gen-2005 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
“A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient” 1-gen-1998 GASPARINI, PAOLO +
A novel mutation in SACS gene in a family from southern Italy. 1-gen-2004 GASPARINI, PAOLO +