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Mostrati risultati da 64.343 a 64.362 di 107.527
Titolo Data di pubblicazione Autori File
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 1-gen-2011 GNAN, CHIARADE ROCCO, DANIELASAVOIA, ANNA +
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 1-gen-2003 SINAGRA, GIANFRANCO +
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus 1-gen-1999 GASPARINI, PAOLO +
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss 1-gen-2018 Girotto, GiorgiaVuckovic, DraganaMezzavilla, MassimoGasparini, Paolo +
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 1-gen-2000 SAVOIA, ANNA +
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 1-gen-2019 Mezzavilla M.Faletra F.Gasparini P.Girotto G. +
Mutations in proline 82 of p53 impair its activation by Pin1 and Chk2 in response to DNA damage 1-gen-2005 DEL SAL, GIANNINO +
Mutations in the 3' untranslated region (3' UTR) of NOTCH1 are associated with low CD20 expression levels in chronic lymphocytic leukemia 1-gen-2017 BITTOLO, TAMARABOMBEN, RICCARDOD'AGARO, TIZIANAZUCCHETTO, ANTONELLAMACOR, PAOLOZaja, FrancescoPOZZATO, GABRIELE +
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 1-gen-2011 SAVOIA, ANNAGNAN, CHIARADE ROCCO, DANIELADI STAZIO, MARIATERESA +
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 1-gen-2019 De Zorzi R.Fortuna S. +
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 1-gen-2002 GASPARINI, PAOLO +
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 1-gen-2011 D'ADAMO, ADAMO PIO +
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 1-gen-2014 DE ROCCO, DANIELANICCHIA, ELENASAVOIA, ANNA +
Mutations of RUNX1 in families with inherited thrombocytopenia 1-gen-2017 DE ROCCO, DANIELABOTTEGA, ROBERTAGNAN, CHIARASAVOIA, ANNA +
"Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency" 1-gen-1998 GASPARINI, PAOLO +
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 1-gen-1997 SAVOIA, ANNA +
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H 1-gen-2008 MERONI, GERMANA +
Mutazioni di ACTN1 in pazienti italiani 1-gen-2013 BOTTEGA, ROBERTAFALESCHINI, MICHELADE ROCCO, DANIELASAVOIA, ANNA +
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 1-gen-2011 GNAN, CHIARASAVOIA, ANNA +
“Le Mutere” di Oderzo (TV). Testimonianze archeologiche da un insediamento rustico d’epoca romana 1-gen-1990 CALLEGHER, BRUNO
Mostrati risultati da 64.343 a 64.362 di 107.527
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