Catalogo dei prodotti della ricerca

NOVELLI, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 289
EU - Europa 155
AS - Asia 55
OC - Oceania 2
SA - Sud America 1
Totale 502
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Nazione #
US - Stati Uniti d'America 286
IT - Italia 84
SG - Singapore 24
SE - Svezia 23
IN - India 17
FI - Finlandia 14
BG - Bulgaria 8
CN - Cina 8
FR - Francia 8
DE - Germania 6
HK - Hong Kong 5
CA - Canada 3
PT - Portogallo 3
RO - Romania 3
AU - Australia 2
NL - Olanda 2
UA - Ucraina 2
AR - Argentina 1
ES - Italia 1
GB - Regno Unito 1
QA - Qatar 1
Totale 502
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Città #
Fairfield 47
Rome 32
Ashburn 29
Chandler 24
Cambridge 18
Woodbridge 16
Houston 15
Wilmington 14
Seattle 13
Singapore 12
Princeton 8
Sofia 8
Ann Arbor 7
Los Angeles 7
New York 7
Beijing 6
Helsinki 6
Millbury 6
San Diego 6
San Paolo di Civitate 6
Hong Kong 5
Plano 5
Lappeenranta 4
Lawrence 4
Milan 4
Norwalk 3
Andover 2
Boston 2
Bühl 2
Dearborn 2
Genazzano 2
Hyderabad 2
Marseille 2
Mottola 2
Paris 2
Porto 2
Romainville 2
San Michele Al Tagliamento 2
Sannois 2
Toronto 2
Viterbo 2
Ariccia 1
Boardman 1
Braga 1
Bremen 1
Doha 1
Falls Church 1
Federal 1
Fremont 1
Genoa 1
Jinan 1
Mannheim 1
Palermo 1
Redmond 1
Redwood City 1
Torre del Greco 1
Venezia 1
Wandsworth 1
Washington 1
Winnipeg 1
Zhongxin 1
Totale 362
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Nome #
A LYMPHOTACTIN-PRODUCING MONOCLONAL T-CELL LYMPHOPROLIFERATIVE DISORDER WITH EXTREME LYMPHOCYTOPENIA AND PROGRESSIVE LEUKOENCEPHALOPATHY 84
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 72
null 66
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome 56
null 33
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 31
Congenital heart defects in the recurrent 2q13 deletion syndrome 29
null 27
Identification of a robust DNA methylation signature for Fanconi anemia 20
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 18
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome 18
Congenital heart defects in molecularly confirmed KBG syndrome patients 16
PATZ1-rearranged tumors of the central nervous system: characterization of a pediatric series of seven cases 15
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl 14
Defining the phenotype of FHF1 developmental and epileptic encephalopathy 13
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 13
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement 11
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy 9
MED13 mutation. A novel cause of developmental and epileptic encephalopathy with infantile spasms 9
FOXP1-related intellectual disability syndrome: a recognisable entity 5
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 4
Prenatal CFAP53-related laterality defect: case report and review of the literature 2
Totale 565
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Categoria #
all - tutte 1.957
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 1.957
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202081 12 2 5 3 8 11 9 9 9 8 4 1
2020/202130 2 2 2 10 0 2 2 3 1 4 1 1
2021/202293 4 3 7 7 14 5 1 3 12 11 12 14
2022/2023103 17 14 3 14 10 7 7 5 3 8 3 12
2023/2024176 7 18 4 13 13 27 4 20 0 23 18 29
Totale 565