IRIS
NIGRO, VINCENZO
 Distribuzione geografica
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Continente #
NA - Nord America 152
EU - Europa 87
AS - Asia 36
AF - Africa 8
OC - Oceania 1
Totale 284
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Nazione #
US - Stati Uniti d'America 142
IT - Italia 49
CN - Cina 33
CA - Canada 10
NL - Olanda 10
CI - Costa d'Avorio 8
FR - Francia 7
PT - Portogallo 7
DE - Germania 4
FI - Finlandia 4
IE - Irlanda 3
IN - India 2
AU - Australia 1
GR - Grecia 1
HR - Croazia 1
RU - Federazione Russa 1
TR - Turchia 1
Totale 284
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Città #
Chandler 27
Ashburn 11
Napoli 11
Amsterdam 10
Naples 10
Ottawa 10
Millbury 7
Salt Lake City 6
Boston 5
Nanjing 5
Princeton 5
Wilmington 5
Funchal 4
Rome 4
West Jordan 4
Beijing 3
Formia 3
Jacksonville 3
Lawrence 3
Lisbon 3
Salerno 3
Shenyang 3
Hyderabad 2
Kronberg 2
Lyon 2
Osio Sotto 2
Tianjin 2
Aversa 1
Bloomington 1
Castellammare di Stabia 1
Council Bluffs 1
Des Moines 1
Dublin 1
Genova 1
Hebei 1
Helsinki 1
Istanbul 1
Jiaxing 1
Kunming 1
Lanzhou 1
Los Angeles 1
New York 1
Pozza di Fassa 1
Redwood City 1
Reggio Nell'emilia 1
Slavonski Brod 1
Washington 1
Totale 175
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Nome #
Congenital myopathies: Clinical phenotypes and new diagnostic tools 33
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 32
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 29
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report 21
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 20
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. 20
Turbe della conduzione atrio-ventricolare, familiari, associate a miopatia 18
Le Distrofie muscolari dei Cingoli autosomiche recessive in Sud Italia: Aspetti clinici, genetici ed epidemiologici. 16
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 16
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 16
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 15
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 13
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 13
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 12
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 8
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families 6
Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva 6
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 5
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region 5
Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster 3
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 3
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 1
Totale 311
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Categoria #
all - tutte 1.672
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 1.672
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191 0 0 0 0 0 0 0 0 0 0 1 0
2019/202031 12 0 0 0 0 0 4 1 0 3 5 6
2020/202116 3 1 0 1 0 4 0 0 2 3 1 1
2021/202237 0 0 0 0 0 0 0 1 5 6 9 16
2022/202388 8 6 3 5 5 7 0 13 10 16 13 2
2023/2024111 6 10 2 12 3 10 1 12 2 22 31 0
Totale 311