Rezultati pretrage - Pietro Palumbo
- Prikaz rezultata 1 – 4 od 4
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1
Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia od Sandra, Mastroianno, Maria Pia, Leone, Stefano, Castellana, Pietro, Palumbo, Crociani, Paola, Aldo, Russo, Giuseppe, Di Stolfo, Massimo, Carella
Izdano 2019Tekst -
2
Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations od Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni Battista Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi, Pio D’Adamo
Izdano 2014Artigo -
3
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 od Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe d’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese
Izdano 2014Artigo -
4
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 od Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada‐Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, M Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, M Basly, Myriam Châabouni, Massimo Carella, Gianni Russo, María Clara Bonaglia, Orsetta Zuffardi
Izdano 2014Artigo
Alati za pretragu:
Povezani predmeti
Biology
Gene
Genetics
Medicine
Pathology
Asymptomatic
Atrophy
Audiology
Biochemistry
Breakpoint
Cancer research
Chromosomal translocation
Chromosome
Context (archaeology)
Cytogenetics
Diabetes mellitus
Disorders of sex development
Endocrinology
Environmental health
Enzyme
Gene duplication
GiST
Hearing loss
Internal medicine
Isocitrate dehydrogenase
Mutation
Ophthalmology
Optic nerve
Optic neuropathy
PDGFRA