DIMARTINO, PAOLA
 Distribuzione geografica
Continente #
EU - Europa 30
NA - Nord America 25
AS - Asia 2
Totale 57
Nazione #
US - Stati Uniti d'America 25
IT - Italia 16
IE - Irlanda 10
DE - Germania 3
CN - Cina 1
FI - Finlandia 1
SG - Singapore 1
Totale 57
Città #
Dublin 10
Boardman 9
L’Aquila 6
Ashburn 4
Pavia 4
Lawrence 3
Princeton 3
Chicago 2
Chandler 1
Frankfurt am Main 1
Genova 1
Helsinki 1
Sacramento 1
Seattle 1
Shenzhen 1
Singapore 1
Totale 49
Nome #
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 18
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 14
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 13
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 11
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 7
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 6
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 3
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells 2
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 2
Totale 76
Categoria #
all - tutte 980
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 980


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20229 0 0 0 0 0 0 0 4 1 0 1 3
2022/202314 4 0 0 0 0 1 0 0 9 0 0 0
2023/202423 1 0 0 7 3 4 0 1 0 1 0 6
2024/202530 10 14 0 0 3 3 0 0 0 0 0 0
Totale 76