PINELLI, MICHELE
 Distribuzione geografica
Continente #
EU - Europa 276
AS - Asia 74
SA - Sud America 10
NA - Nord America 7
Totale 367
Nazione #
IT - Italia 271
SG - Singapore 35
VN - Vietnam 20
CN - Cina 15
BR - Brasile 5
US - Stati Uniti d'America 5
AR - Argentina 3
IN - India 2
MX - Messico 2
NL - Olanda 2
CL - Cile 1
CO - Colombia 1
ES - Italia 1
HK - Hong Kong 1
ID - Indonesia 1
LI - Liechtenstein 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 367
Città #
Genoa 134
Genova 85
Rapallo 29
Vado Ligure 20
Singapore 9
Beijing 6
Ho Chi Minh City 6
Ashburn 4
Hanoi 4
Haiphong 2
Mexico City 2
Quảng Ngãi 2
Araruama 1
Bratislava 1
Bắc Ninh 1
Cartagena 1
Castro 1
General Pacheco 1
Hong Kong 1
Indaiatuba 1
Itariri 1
Jaguariúna 1
Ludhiana 1
Lấp Vò 1
Mendoza 1
Mumbai 1
Phủ Lý 1
Recife 1
San Jose 1
Santo Tomé 1
Totale 321
Nome #
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 146
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 59
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 34
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 34
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 32
An interconnected data infrastructure to support large-scale rare disease research 26
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 18
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 8
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 7
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 7
Correction to: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes (European Journal of Human Genetics, (2024), 32, 8, (998-1004), 10.1038/s41431-024-01637-4) 7
Totale 387
Categoria #
all - tutte 1.387
article - articoli 1.387
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.774


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202114 0 0 0 0 0 7 0 1 1 2 0 3
2021/202217 3 0 0 1 0 2 0 2 1 1 3 4
2022/202336 2 2 0 3 5 4 0 1 10 0 9 0
2023/202423 0 8 0 5 3 2 2 0 0 1 1 1
2024/202545 2 3 0 7 3 7 2 5 2 1 4 9
2025/2026193 12 11 38 34 84 14 0 0 0 0 0 0
Totale 387