IRIS
DE BRASI, DANIELE
 Distribuzione geografica
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Continente #
NA - Nord America 240
EU - Europa 102
AS - Asia 65
AF - Africa 7
Totale 414
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Nazione #
US - Stati Uniti d'America 236
SG - Singapore 43
IT - Italia 37
NL - Olanda 29
CN - Cina 15
UA - Ucraina 15
FI - Finlandia 8
CI - Costa d'Avorio 6
DE - Germania 6
CA - Canada 4
IE - Irlanda 3
IN - India 3
GB - Regno Unito 2
HK - Hong Kong 2
SE - Svezia 2
IR - Iran 1
JP - Giappone 1
ZA - Sudafrica 1
Totale 414
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Città #
Chandler 44
Singapore 35
Amsterdam 24
Jacksonville 18
Santa Clara 13
Ashburn 12
Naples 12
Woodbridge 10
Millbury 7
Princeton 7
Boston 5
Catania 5
Nanjing 4
Seattle 4
Des Moines 3
Shenyang 3
Augusta 2
Beijing 2
Dallas 2
Formia 2
Hong Kong 2
Houston 2
Lawrence 2
Milan 2
Napoli 2
Pune 2
Rome 2
Wilmington 2
Ardabil 1
Bengaluru 1
Boardman 1
Bournemouth 1
Casavatore 1
Castellammare di Stabia 1
Cava de' Tirreni 1
Chengdu 1
Dublin 1
Fairfield 1
Falls Church 1
Kagoya 1
Kunming 1
Lappeenranta 1
Los Angeles 1
Ottawa 1
Pozzuoli 1
Prineville 1
Redmond 1
Richmond 1
Salerno 1
San Mateo 1
Sant'Anastasia 1
Shanghai 1
Totale 254
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Nome #
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype 62
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 48
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 43
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation 41
Thyroid transcription factor 1 phosphorylation is not required for protein kinase A-dependent transcription of the thyroglobulin promoter. 33
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 31
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 30
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 29
Holt-Oram syndrome associated with anomalies of the feet 28
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association? 28
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association 20
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis 20
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 10
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 10
Totale 433
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Categoria #
all - tutte 2.254
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 2.254
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202012 0 0 0 0 3 0 0 0 0 0 3 6
2020/202129 0 3 3 3 5 2 3 0 3 0 7 0
2021/202260 11 0 0 2 0 0 1 2 2 2 20 20
2022/2023132 9 5 4 6 13 17 3 13 27 26 8 1
2023/202484 7 19 10 6 3 7 2 10 1 1 9 9
2024/202568 14 18 1 12 23 0 0 0 0 0 0 0
Totale 433