Catalogo dei prodotti della ricerca

DENTICI, MARIA LISA
 Distribuzione geografica
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Continente #
NA - Nord America 521
EU - Europa 140
AS - Asia 112
AF - Africa 3
OC - Oceania 2
Totale 778
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Nazione #
US - Stati Uniti d'America 520
IT - Italia 74
SG - Singapore 56
CN - Cina 23
IN - India 21
SE - Svezia 19
FI - Finlandia 15
BG - Bulgaria 6
DE - Germania 6
HK - Hong Kong 5
BE - Belgio 3
FR - Francia 3
ID - Indonesia 3
RU - Federazione Russa 3
TG - Togo 3
AU - Australia 2
IE - Irlanda 2
NL - Olanda 2
UA - Ucraina 2
CA - Canada 1
CY - Cipro 1
DK - Danimarca 1
ES - Italia 1
GB - Regno Unito 1
LU - Lussemburgo 1
MY - Malesia 1
PK - Pakistan 1
RO - Romania 1
TW - Taiwan 1
Totale 778
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Città #
Fairfield 96
Ashburn 52
Singapore 37
Woodbridge 37
Seattle 36
Rome 35
Wilmington 34
Chandler 33
Cambridge 28
Houston 26
Santa Clara 23
Beijing 17
Helsinki 12
Princeton 12
San Diego 12
Millbury 9
Dearborn 7
Lawrence 7
Plano 7
Ann Arbor 6
San Paolo di Civitate 6
Sofia 6
Hong Kong 5
Los Angeles 4
Boardman 3
Boston 3
Bühl 3
Jakarta 3
Lomé 3
New York 3
Norwalk 3
Andover 2
Bremen 2
Cormano 2
Dublin 2
Falls Church 2
Moscow 2
Phoenix 2
Redmond 2
Amsterdam 1
Ariccia 1
Casa Sampieri-Lunardi 1
Chaoyang 1
Ciciliano 1
Des Moines 1
Falkenstein 1
Florence 1
Fremont 1
Guangzhou 1
Harbin 1
Hyderabad 1
Kunming 1
Madrid 1
Milan 1
Nanjing 1
Naples 1
Nicosia 1
Pomezia 1
Putignano 1
Redwood City 1
Roskilde 1
Saint-herblain 1
San Mateo 1
Toronto 1
Torre del Greco 1
Venezia 1
Totale 611
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Nome #
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome 118
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies 94
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome 85
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome 82
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome 79
Congenital heart defects in molecularly proven Kabuki syndrome patients 61
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null 37
Congenital heart defects in the recurrent 2q13 deletion syndrome 33
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 23
Congenital heart defects in molecularly confirmed KBG syndrome patients 21
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl 20
POGZ-related epilepsy. Case report and review of the literature 15
MED13 mutation. A novel cause of developmental and epileptic encephalopathy with infantile spasms 14
Familial aggregation of “apple peel” intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations 13
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 12
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy 11
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency 11
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 10
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology. 8
Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow-up 7
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 6
Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations 4
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Totale 844
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Categoria #
all - tutte 2.969
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 2.969
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020100 0 0 0 0 0 0 28 21 20 19 8 4
2020/202187 6 4 5 8 0 5 6 2 5 34 10 2
2021/2022119 3 2 14 7 18 6 2 11 11 11 13 21
2022/2023126 20 21 8 15 10 15 3 4 11 8 7 4
2023/202492 4 11 4 13 4 11 0 11 1 25 2 6
2024/2025114 1 11 11 10 43 34 4 0 0 0 0 0
Totale 844