DI GIOSAFFATTE, NICCOLO'
 Distribuzione geografica
Continente #
NA - Nord America 180
EU - Europa 136
AS - Asia 68
SA - Sud America 3
OC - Oceania 1
Totale 388
Nazione #
US - Stati Uniti d'America 175
IT - Italia 94
SG - Singapore 52
SE - Svezia 12
AT - Austria 6
DE - Germania 6
CA - Canada 5
CN - Cina 5
RU - Federazione Russa 5
IN - India 4
BR - Brasile 3
FI - Finlandia 3
FR - Francia 3
ID - Indonesia 3
IR - Iran 3
BG - Bulgaria 2
IE - Irlanda 2
NL - Olanda 2
AU - Australia 1
AZ - Azerbaigian 1
CH - Svizzera 1
Totale 388
Città #
Rome 51
Singapore 30
Ashburn 23
Fairfield 20
Chandler 14
Santa Clara 11
Woodbridge 9
Seattle 7
Wilmington 7
Princeton 6
Cambridge 5
Houston 5
Millbury 5
New York 5
San Diego 5
Milan 4
Ottawa 4
Ann Arbor 3
Corato 3
Frascati 3
Jakarta 3
Nuremberg 3
Silvi 3
Andover 2
Beijing 2
Boardman 2
Dallas 2
Dearborn 2
Dublin 2
Falkenstein 2
Helsinki 2
Reggio Emilia 2
Romainville 2
San Paolo di Civitate 2
Shenyang 2
Sofia 2
Vienna 2
Ariccia 1
Baku 1
Boston 1
Bühl 1
Lappeenranta 1
Latina 1
Lawrence 1
Manassas 1
Melbourne 1
Monterotondo 1
Naples 1
Palermo 1
Plano 1
Prad am Stilfser Joch 1
Rolante 1
Salvador 1
San Mateo 1
Tehran 1
Toronto 1
Washington 1
Yubileyny 1
Zheleznodorozhnyy 1
Zurich 1
Água Boa 1
Totale 281
Nome #
Prevalence, type, and molecular spectrum of NF1 mutations in patients with neurofibromatosis type 1 and congenital heart disease 84
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? 56
null 56
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report 46
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation 37
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 32
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy 30
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB 26
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman 25
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports 18
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility 8
Totale 418
Categoria #
all - tutte 2.100
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 2.100


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202016 0 0 0 0 0 0 0 0 6 5 3 2
2020/202127 6 1 0 2 0 0 0 6 6 6 0 0
2021/202243 0 0 3 0 4 1 0 1 3 11 7 13
2022/202374 12 7 7 3 10 10 2 12 0 2 9 0
2023/202491 7 13 4 9 11 15 7 2 1 4 12 6
2024/2025118 12 8 19 11 14 14 21 12 7 0 0 0
Totale 418