Bicocca Open Archive

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BRUNO, LUCIA PIA
 Distribuzione geografica
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Continente #
EU - Europa 60
AS - Asia 48
NA - Nord America 46
OC - Oceania 1
Totale 155
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Nazione #
US - Stati Uniti d'America 46
RU - Federazione Russa 28
SG - Singapore 27
IT - Italia 26
HK - Hong Kong 13
ID - Indonesia 6
DE - Germania 3
CN - Cina 1
FR - Francia 1
IN - India 1
NL - Olanda 1
NZ - Nuova Zelanda 1
SE - Svezia 1
Totale 155
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Città #
Singapore 23
Santa Clara 21
Milan 14
Hong Kong 13
Jakarta 6
Berlin 3
West Jordan 2
Ashburn 1
Christchurch 1
Delhi 1
Los Angeles 1
Melzo 1
Shanghai 1
Springfield 1
Totale 89
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Nome #
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 25
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay 23
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations 20
Natural history of KBG syndrome in a large European cohort 16
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 16
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 16
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 15
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant 15
Patient preferences in genetic newborn screening for rare diseases: study protocol 13
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 12
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 10
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 10
Totale 191
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Categoria #
all - tutte 1.393
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 1.393
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202461 0 0 0 0 0 0 0 0 37 5 7 12
2024/2025130 14 41 30 16 29 0 0 0 0 0 0 0
Totale 191