IRIS
DEL VECCHIO BLANCO, Francesca
 Distribuzione geografica
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Continente #
EU - Europa 343
NA - Nord America 336
AS - Asia 59
Continente sconosciuto - Info sul continente non disponibili 2
SA - Sud America 1
Totale 741
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Nazione #
US - Stati Uniti d'America 335
IE - Irlanda 139
IT - Italia 82
CN - Cina 38
GB - Regno Unito 35
DE - Germania 21
UA - Ucraina 19
SG - Singapore 15
FR - Francia 13
GR - Grecia 11
SE - Svezia 9
FI - Finlandia 6
TR - Turchia 4
BE - Belgio 2
ES - Italia 2
NL - Olanda 2
PK - Pakistan 2
A1 - Anonimo 1
AT - Austria 1
BR - Brasile 1
CA - Canada 1
CZ - Repubblica Ceca 1
EU - Europa 1
Totale 741
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Città #
Dublin 138
Chandler 103
Jacksonville 34
Caserta 18
Ann Arbor 15
Bremen 15
Princeton 15
Roxbury 15
Boardman 10
Medford 9
Singapore 9
Woodbridge 8
Cambridge 7
New York 6
Shenyang 6
Wilmington 6
Ercolano 5
Naples 5
Des Moines 4
Agropoli 3
Catania 3
Haikou 3
Hangzhou 3
Marano Di Napoli 3
Pignataro Maggiore 3
Tianjin 3
Beijing 2
Brussels 2
Castelfranco Emilia 2
Chicago 2
Fucecchio 2
Grafing 2
Groningen 2
Helsinki 2
Jinan 2
Lappeenranta 2
London 2
Marigliano 2
Milan 2
Mountain View 2
Nanchang 2
Nanjing 2
Napoli 2
Redwood City 2
Taiyuan 2
Wuhan 2
Ashburn 1
Atlanta 1
Auburn Hills 1
Aversa 1
Bagneux 1
Brno 1
Changsha 1
Fairfield 1
Guangzhou 1
Houston 1
Köln 1
Madrid 1
Marseille 1
Ningbo 1
Norwalk 1
Ottawa 1
San Martino 1
Sarno 1
Shanghai 1
Solofra 1
Taizhou 1
Teano 1
Valencia 1
Viamão 1
Vienna 1
Zhengzhou 1
Totale 515
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Nome #
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. 85
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 72
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 70
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 60
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 56
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 52
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 49
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man 48
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 46
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 43
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 43
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 38
BROX haploinsufficiency in familial nonmedullary thyroid cancer 35
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 35
Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics 30
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 22
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 14
An atypical Aymé-Gripp phenotype detected by exome sequencing 11
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome 9
Totale 818
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Categoria #
all - tutte 3.501
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 3.501
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020100 13 17 3 18 8 0 10 2 0 4 18 7
2020/2021101 3 1 8 20 18 2 12 8 3 4 16 6
2021/2022124 2 2 0 7 38 5 9 2 4 18 4 33
2022/2023315 20 6 13 27 39 29 0 18 143 6 6 8
2023/2024108 8 7 7 7 31 13 3 2 0 1 9 20
2024/20253 3 0 0 0 0 0 0 0 0 0 0 0
Totale 818