IRIS
NIGRO, Vincenzo
 Distribuzione geografica
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Continente #
EU - Europa 145
NA - Nord America 30
AS - Asia 23
OC - Oceania 2
Totale 200
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Nazione #
DE - Germania 37
IE - Irlanda 36
US - Stati Uniti d'America 29
IT - Italia 28
FR - Francia 24
VN - Vietnam 16
CZ - Repubblica Ceca 8
RU - Federazione Russa 5
DK - Danimarca 3
AU - Australia 2
IN - India 2
IR - Iran 2
SE - Svezia 2
CA - Canada 1
GB - Regno Unito 1
ID - Indonesia 1
JP - Giappone 1
NL - Olanda 1
TR - Turchia 1
Totale 200
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Città #
Dublin 36
Dong Ket 16
Caserta 15
Paris 12
Ashburn 5
Bremen 5
Leawood 5
Saint-Germain-en-Laye 5
Houston 4
Nürnberg 4
Aarhus 3
Council Bluffs 3
Le Pecq 2
Napoli 2
Philadelphia 2
Stockholm 2
The Bronx 2
Acerra 1
Boardman 1
Chiba 1
Genoa 1
Groningen 1
Istanbul 1
Jakarta 1
Knottingley 1
Kochi 1
Leesville 1
Melbourne 1
Peachtree Corners 1
San Mateo 1
St Petersburg 1
Toronto 1
Trivandrum 1
Volgograd 1
West Mifflin 1
Totale 141
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Nome #
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1, file dfd1c04c-166f-0799-e053-6605fe0a8ddb 54
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review, file dfd1c04b-d3ba-0799-e053-6605fe0a8ddb 25
Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells, file dfd1c04b-d379-0799-e053-6605fe0a8ddb 17
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report, file dfd1c04a-f0f4-0799-e053-6605fe0a8ddb 13
Enhancer chip: detecting human copy number variations in regulatory elements., file dfd1c04a-d6ca-0799-e053-6605fe0a8ddb 12
Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast, file dfd1c04b-4bd8-0799-e053-6605fe0a8ddb 11
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, file dfd1c04b-4e2b-0799-e053-6605fe0a8ddb 11
Clinical, biochemical and molecular characterization of prosaposin deficiency, file dfd1c04c-a31c-0799-e053-6605fe0a8ddb 11
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results, file dfd1c04a-fc51-0799-e053-6605fe0a8ddb 10
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers, file dfd1c04a-ff85-0799-e053-6605fe0a8ddb 7
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results, file dfd1c04a-4beb-0799-e053-6605fe0a8ddb 4
Therapeutic homology-independent targeted integration in retina and liver, file 7f9f1660-77f4-4a78-834c-656aa034e4cc 3
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies, file dfd1c04a-868d-0799-e053-6605fe0a8ddb 3
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients, file dfd1c04c-319b-0799-e053-6605fe0a8ddb 3
Prevalence of Anti-Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial, file dfd1c04a-9bfc-0799-e053-6605fe0a8ddb 2
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1, file dfd1c04a-a821-0799-e053-6605fe0a8ddb 2
Next generation sequencing detection of late onset pompe disease, file dfd1c04b-4e30-0799-e053-6605fe0a8ddb 2
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies, file dfd1c04a-3b07-0799-e053-6605fe0a8ddb 1
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie, file dfd1c04a-47a1-0799-e053-6605fe0a8ddb 1
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders, file dfd1c04a-5417-0799-e053-6605fe0a8ddb 1
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations, file dfd1c04a-5ba9-0799-e053-6605fe0a8ddb 1
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy., file dfd1c04a-8d14-0799-e053-6605fe0a8ddb 1
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases, file dfd1c04a-a70e-0799-e053-6605fe0a8ddb 1
Purified estrogen receptor enhances in vitro transcription, file dfd1c04a-c219-0799-e053-6605fe0a8ddb 1
Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments, file dfd1c04b-01bf-0799-e053-6605fe0a8ddb 1
Proteolytic activity of the purified hormone-binding subunit of the estrogen receptor, file dfd1c04b-0948-0799-e053-6605fe0a8ddb 1
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients., file dfd1c04b-8a27-0799-e053-6605fe0a8ddb 1
Congenital myopathies: Clinical phenotypes and new diagnostic tools, file dfd1c04b-d36d-0799-e053-6605fe0a8ddb 1
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis, file dfd1c04c-5f57-0799-e053-6605fe0a8ddb 1
Comprehensive kinome NGS targeted expression profiling by KING-REX, file dfd1c04d-0138-0799-e053-6605fe0a8ddb 1
Solving unsolved rare neurological diseases—a Solve-RD viewpoint, file dfd1c04d-be45-0799-e053-6605fe0a8ddb 1
Totale 204
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Categoria #
all - tutte 988
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 988
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202011 0 0 0 1 1 0 2 1 1 4 1 0
2020/202152 0 1 0 1 7 6 9 6 4 1 0 17
2021/202214 0 0 1 4 0 1 1 3 1 1 0 2
2022/2023104 2 2 0 1 15 6 3 21 41 2 11 0
2023/20246 3 0 1 0 1 0 0 0 1 0 0 0
Totale 204