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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypecDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity geneHuman NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissuesHuman homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeSMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene familySevere infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4ALoss-of-Function Mutations in APPL1 in Familial Diabetes MellitusAssignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11Novel SMAD4 mutation causing Myhre syndromeIdentification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeFunctional analysis of splicing mutations in exon 7 of NF1 geneMotor neurone metabolism.Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient populationA sketch of known and novel MYCN-associated miRNA networks in neuroblastoma.Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding.Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.Different expression of the myotonin protein kinase gene in discrete areas of human brain.Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.Human developing motor neurons as a tool to study ALS.Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family membersClinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to Typing HLA-B*57:01 in HIV-1-Positive Patients.HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typingRecessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesisLoss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.Mitochondrial disfunction as a cause of ALS.Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.The emerging role of MicroRNA in schizophrenia.Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study.Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition.
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description
researcher
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wetenschapper
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հետազոտող
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name
Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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type
label
Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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prefLabel
Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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Antonio Pizzuti
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P106
P1153
7005048675
P21
P31
P496
0000-0003-3245-1925