VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q45293273 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241121000107.0
008 241121nneanz||abbn n and d
035 ‎‡a (WKP)Q45293273‏
024 ‎‡a 0000-0002-8357-2658‏ ‎‡2 orcid‏
024 ‎‡a 6603693525‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q45293273‏
100 0 ‎‡a Emilio Di Maria‏ ‎‡c researcher‏ ‎‡9 en‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Emilio Di Maria‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
670 ‎‡a Author's 19q13 microdeletion syndrome: Further refining the critical region.‏
670 ‎‡a Author's 3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?‏
670 ‎‡a Author's A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B‏
670 ‎‡a Author's A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci‏
670 ‎‡a Author's A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.‏
670 ‎‡a Author's A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development‏
670 ‎‡a Author's A putative regulatory subunit‏
670 ‎‡a Author's A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study‏
670 ‎‡a Author's A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.‏
670 ‎‡a Author's Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?‏
670 ‎‡a Author's Clinical and genetic characteristics of late-onset Huntington's disease‏
670 ‎‡a Author's Clinical and genetic study of essential tremor in the Italian population‏
670 ‎‡a Author's Congenital hypomyelination due to myelin protein zero Q215X mutation‏
670 ‎‡a Author's Does parkin play a role in the peripheral nervous system? A family report‏
670 ‎‡a Author's Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers‏
670 ‎‡a Author's Essential tremor is not associated with alpha-synuclein gene haplotypes‏
670 ‎‡a Author's Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II‏
670 ‎‡a Author's Family and molecular data for a fine analysis of age at onset in Huntington disease.‏
670 ‎‡a Author's Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset‏
670 ‎‡a Author's Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.‏
670 ‎‡a Author's Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol‏
670 ‎‡a Author's Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis‏
670 ‎‡a Author's Genetic variation in the G720/G30 gene locus‏
670 ‎‡a Author's Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease‏
670 ‎‡a Author's Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene‏
670 ‎‡a Author's How is genetic testing evaluated? A systematic review of the literature.‏
670 ‎‡a Author's Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.‏
670 ‎‡a Author's Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy‏
670 ‎‡a Author's Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?‏
670 ‎‡a Author's Mental function in males and females.‏
670 ‎‡a Author's Mutational analysis of parkin gene by denaturing high-performance liquid chromatography‏
670 ‎‡a Author's Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.‏
670 ‎‡a Author's No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease‏
670 ‎‡a Author's No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients‏
670 ‎‡a Author's Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment‏
670 ‎‡a Author's Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling‏
670 ‎‡a Author's Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene‏
670 ‎‡a Author's Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.‏
670 ‎‡a Author's Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies‏
670 ‎‡a Author's Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation‏
670 ‎‡a Author's The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.‏
670 ‎‡a Author's The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter‏
670 ‎‡a Author's The H1 haplotype of the tau gene‏
670 ‎‡a Author's The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.‏
670 ‎‡a Author's The policy of public health genomics in Italy‏
670 ‎‡a Author's The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.‏
909 ‎‡a (orcid) 0000000283572658‏ ‎‡9 1‏
909 ‎‡a (scopus) 6603693525‏ ‎‡9 1‏
912 ‎‡a clinicalandgeneticcharacteristicsoflateonsethuntingtonsdisease‏ ‎‡A Clinical and genetic characteristics of late-onset Huntington's disease‏ ‎‡9 1‏
919 ‎‡a 19q13microdeletionsyndromefurtherrefiningthecriticalregion‏ ‎‡A 19q13 microdeletion syndrome: Further refining the critical region.‏ ‎‡9 1‏
919 ‎‡a 3q26333q272microdeletionanewmicrodeletionsyndrome‏ ‎‡A 3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?‏ ‎‡9 1‏
919 ‎‡a familywithautosomaldominantmutilatingneuropathynotlinkedtoeithercharcotmarietoothdiseasetype2b‏ ‎‡A A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B‏ ‎‡9 1‏
919 ‎‡a familywithautosomaldominantmutilatingneuropathynotlinkedtoeithercharcotmarietoothdiseasetype2bcmt2borhereditarysensoryneuropathytype1hsn1loci‏ ‎‡A A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci‏ ‎‡9 1‏
919 ‎‡a majorityofhuntingtonsdiseasepatientsmaybetreatablebyindividualizedallelespecificrnainterference‏ ‎‡A A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.‏ ‎‡9 1‏
919 ‎‡a patientwithaskulldefectdysmorphicfeatureshypopituitarismandabnormalcorticaldevelopment‏ ‎‡A A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development‏ ‎‡9 1‏
919 ‎‡a putativeregulatorysubunit‏ ‎‡A A putative regulatory subunit‏ ‎‡9 1‏
919 ‎‡a putativeregulatorysubunitnr3aofthenmdareceptorcomplexascandidategeneforsusceptibilitytoschizophreniaacasecontrolstudy‏ ‎‡A A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study‏ ‎‡9 1‏
919 ‎‡a singlenucleotidevariantinthefmr1cggrepeatresultsinapseudodeletionandisnotassociatedwiththefragile10syndromephenotype‏ ‎‡A A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.‏ ‎‡9 1‏
919 ‎‡a arthropathyosteolysiskeloidsrelapsingconjunctivalpannusandgingivalovergrowthavariantofpolyfibromatosis‏ ‎‡A Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?‏ ‎‡9 1‏
919 ‎‡a clinicalandgeneticstudyofessentialtremorintheitalianpopulation‏ ‎‡A Clinical and genetic study of essential tremor in the Italian population‏ ‎‡9 1‏
919 ‎‡a congenitalhypomyelinationduetomyelinprotein0q215xmutation‏ ‎‡A Congenital hypomyelination due to myelin protein zero Q215X mutation‏ ‎‡9 1‏
919 ‎‡a doesparkinplayaroleintheperipheralnervoussystemafamilyreport‏ ‎‡A Does parkin play a role in the peripheral nervous system? A family report‏ ‎‡9 1‏
919 ‎‡a dopaminetransporterimagingstudyinparkinsonismoccurringinfragile10premutationcarriers‏ ‎‡A Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers‏ ‎‡9 1‏
919 ‎‡a essentialtremorisnotassociatedwithalphasynucleingenehaplotypes‏ ‎‡A Essential tremor is not associated with alpha-synuclein gene haplotypes‏ ‎‡9 1‏
919 ‎‡a exclusionoftheninjuringeneasacandidateforhereditarysensoryneuropathiestype1andtype2‏ ‎‡A Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II‏ ‎‡9 1‏
919 ‎‡a familyandmoleculardataforafineanalysisofageatonsetinhuntingtondisease‏ ‎‡A Family and molecular data for a fine analysis of age at onset in Huntington disease.‏ ‎‡9 1‏
919 ‎‡a friedreichsataxiaanewmutationin2compoundheterozygoussiblingswithunusualclinicalonset‏ ‎‡A Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset‏ ‎‡9 1‏
919 ‎‡a geneticcounselingandtestingforalzheimersdiseaseandfrontotemporallobardegenerationanitalianconsensusprotocol‏ ‎‡A Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.‏ ‎‡9 1‏
919 ‎‡a geneticcounsellingandtestingforinheriteddementiasinglecentreevaluationoftheconsensusitaliandiafnprotocol‏ ‎‡A Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol‏ ‎‡9 1‏
919 ‎‡a geneticvariantsofthehumanhostinfluencingthecoronavirusassociatedphenotypessarsmersandcovid19rapidsystematicreviewandfieldsynopsis‏ ‎‡A Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis‏ ‎‡9 1‏
919 ‎‡a geneticvariationintheg720g30genelocus‏ ‎‡A Genetic variation in the G720/G30 gene locus‏ ‎‡9 1‏
919 ‎‡a geneticvariationintheg720g30genelocusdaoainfluencestheoccurrenceofpsychoticsymptomsinpatientswithalzheimersdisease‏ ‎‡A Genetic variation in the G720/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease‏ ‎‡9 1‏
919 ‎‡a hereditarysensoryneuropathyiscausedbyamutationinthedeltasubunitofthecytosolicchaperonincontainingtcomplexpeptide1cct4gene‏ ‎‡A Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene‏ ‎‡9 1‏
919 ‎‡a howisgenetictestingevaluatedasystematicreviewoftheliterature‏ ‎‡A How is genetic testing evaluated? A systematic review of the literature.‏ ‎‡9 1‏
919 ‎‡a inclusionbodymyopathypagetsdiseaseoftheboneandfrontotemporaldementiarecurrenceofthevcpr155hmutationinanitalianfamilyandimplicationsforgeneticcounselling‏ ‎‡A Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.‏ ‎‡9 1‏
919 ‎‡a isapropernamethepropernameasurveyonattitudeofclinicalgeneticiststowardseponymsinitaly‏ ‎‡A Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy‏ ‎‡9 1‏
919 ‎‡a ishardikarsyndromedistinctfromkabukiniikawakurokisyndrome‏ ‎‡A Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?‏ ‎‡9 1‏
919 ‎‡a mentalfunctioninmalesandfemales‏ ‎‡A Mental function in males and females.‏ ‎‡9 1‏
919 ‎‡a mutationalanalysisofparkingenebydenaturinghighperformanceliquidchromatography‏ ‎‡A Mutational analysis of parkin gene by denaturing high-performance liquid chromatography‏ ‎‡9 1‏
919 ‎‡a mutationalanalysisofparkingenebydenaturinghighperformanceliquidchromatographydhplcinessentialtremor‏ ‎‡A Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.‏ ‎‡9 1‏
919 ‎‡a noevidenceofassociationbetweenbdnfgenevariantsandageatonsetofhuntingtonsdisease‏ ‎‡A No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease‏ ‎‡9 1‏
919 ‎‡a noevidenceofassociationbetweencagexpansionsandessentialtremorinalargecohortofitalianpatients‏ ‎‡A No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients‏ ‎‡9 1‏
919 ‎‡a possibleinfluenceofanonsynonymouspolymorphismlocatedinthengfprecursoronsusceptibilitytolateonsetalzheimersdiseaseandmildcognitiveimpairment‏ ‎‡A Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment‏ ‎‡9 1‏
919 ‎‡a predictingresponsetoneoadjuvanttherapyincolorectalcancerpatientstheroleofmessengerandmicrornaprofiling‏ ‎‡A Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling‏ ‎‡9 1‏
919 ‎‡a recurrenceofmowatwilsonsyndromeinsiblingswithanovelmutationinthezeb2gene‏ ‎‡A Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene‏ ‎‡9 1‏
919 ‎‡a recurrentactivatingvariantsinthereceptortyrosinekinaseddr2causewarburgcinottisyndrome‏ ‎‡A Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.‏ ‎‡9 1‏
919 ‎‡a searchformutationsintheegr2corepressorproteinsnab1andnab2inhumanperipheralneuropathies‏ ‎‡A Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies‏ ‎‡9 1‏
919 ‎‡a severefluoropyrimidinerelatedtoxicityclinicalimplicationsofdpydanalysisanduh2uratioevaluation‏ ‎‡A Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation‏ ‎‡9 1‏
919 ‎‡a 413cgsubstitutioninthepromoterofthefmr1geneisnotassociatedwiththefragile10syndromephenotype‏ ‎‡A The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.‏ ‎‡9 1‏
919 ‎‡a d355vmutationdecreasesegr2bindingtoanelementwithinthecx32promoter‏ ‎‡A The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter‏ ‎‡9 1‏
919 ‎‡a h1haplotypeofthetaugene‏ ‎‡A The H1 haplotype of the tau gene‏ ‎‡9 1‏
919 ‎‡a h1haplotypeofthetaugenemaptisassociatedwithmildcognitiveimpairment‏ ‎‡A The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.‏ ‎‡9 1‏
919 ‎‡a policyofpublichealthgenomicsinitaly‏ ‎‡A The policy of public health genomics in Italy‏ ‎‡9 1‏
919 ‎‡a refinementofthecriticalregionforthe2q312q323deletionsyndromeindicatescandidategenesformentalretardationandspeechimpairment‏ ‎‡A The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
996 ‎‡2 SUDOC|26926230X‏
996 ‎‡2 RERO|A012061727‏
996 ‎‡2 JPG|500110207‏
996 ‎‡2 ISNI|0000000083174874‏
996 ‎‡2 PTBNP|66446‏
996 ‎‡2 ISNI|0000000066309693‏
996 ‎‡2 LC|no2009004807‏
996 ‎‡2 ISNI|0000000382040833‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏
998 ‎‡a Di Maria, Emilio‏ ‎‡2 DNB|1230452966‏ ‎‡3 standard number‏