Catalogo dei prodotti della ricerca

Mastromoro, Gioia
 Distribuzione geografica
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Continente #
NA - Nord America 658
EU - Europa 612
AS - Asia 253
OC - Oceania 9
AF - Africa 4
SA - Sud America 3
Totale 1.539
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Nazione #
US - Stati Uniti d'America 639
IT - Italia 358
SG - Singapore 168
SE - Svezia 83
IN - India 43
DE - Germania 26
FI - Finlandia 21
FR - Francia 19
RO - Romania 15
CN - Cina 14
IE - Irlanda 13
CA - Canada 12
BG - Bulgaria 10
GB - Regno Unito 10
AU - Australia 9
ID - Indonesia 9
NO - Norvegia 9
NL - Olanda 8
CH - Svizzera 7
MX - Messico 7
GR - Grecia 6
JP - Giappone 6
RU - Federazione Russa 6
UA - Ucraina 5
BE - Belgio 4
KR - Corea 3
PH - Filippine 3
PT - Portogallo 3
TR - Turchia 3
CZ - Repubblica Ceca 2
DK - Danimarca 2
ES - Italia 2
HK - Hong Kong 2
KE - Kenya 2
LV - Lettonia 2
TG - Togo 2
AR - Argentina 1
AZ - Azerbaigian 1
BR - Brasile 1
EC - Ecuador 1
IR - Iran 1
LT - Lituania 1
Totale 1.539
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Città #
Rome 142
Singapore 139
Chandler 77
Fairfield 69
Santa Clara 44
Woodbridge 36
Ashburn 27
Wilmington 25
Houston 22
Cambridge 19
Princeton 19
San Diego 18
Helsinki 16
Milan 16
Seattle 16
Ann Arbor 15
Dublin 13
New York 13
San Paolo di Civitate 12
Millbury 11
Mumbai 11
Sofia 10
Jakarta 9
Lawrence 9
Oslo 9
Beijing 8
Turin 8
Bremen 7
Naples 7
Paris 7
Moscow 6
Ottawa 6
Pescara 6
Toronto 6
Athens 5
Bologna 5
Boston 5
Brisbane 5
Buffalo 5
Hyderabad 5
Lappeenranta 5
Palermo 5
Altdorf bei Nurnberg 4
Ancona 4
Andover 4
Boardman 4
Brescia 4
Brussels 4
Dearborn 4
Plano 4
Pontoise 4
Puebla City 4
San Mateo 4
Sydney 4
Ascoli Piceno 3
Bern 3
Castiglione del Lago 3
London 3
Mexico City 3
Minneapolis 3
Rosciano 3
Salerno 3
Zhengzhou 3
Zurich 3
Amsterdam 2
Bari 2
Brooklyn 2
Burgthann 2
Bühl 2
Campobasso 2
Caserta 2
Cluj-Napoca 2
Cosenza 2
Dallas 2
Doral 2
Gentofte Municipality 2
Istanbul 2
Jacksonville 2
Julianadorp 2
Latina 2
Livorno 2
Lomé 2
Los Angeles 2
Makati City 2
Missaglia 2
Nairobi 2
Norwalk 2
Padova 2
Pescia 2
Ploieşti 2
Porto 2
Prague 2
Pratovecchio 2
Reading 2
Riga 2
Roseto degli Abruzzi 2
Sannois 2
Seongbuk-gu 2
Terrassa 2
Vicenza 2
Totale 1.048
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Nome #
Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters 141
Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings 89
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy 73
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. 69
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1 69
null 68
null 65
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 63
null 56
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review 52
Pathophysiology of coarctation of aorta in dichorionic twins with growth discordance 48
External hydrocephalus as a prenatal feature of Noonan Syndrome 47
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 43
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis 41
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells 33
The embryology of the interatrial septum 32
DETECTION OF CARDIOVASCULAR ABNORMALITIES IN PEDIATRIC PATIENTS WITH EHLERS-DANLOS SYNDROME: ROLE OF NEW ECHOCARDIOGRAPHIC TECHNIQUES 31
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis 30
Fetal echocardiographic features of absent pulmonary valve syndrome 30
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome 30
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease 29
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 26
Neonatal Marfan Syndrome by Inherited Mutation 26
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy 25
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 25
Myoclonic epilepsy. case report of a mild phenotype in a pediatric patient expanding clinical spectrum of kcna2 pathogenic variants 25
Coexisting genetic findings in a cohort of patients with laboratory confirmation of 22q11.2 deletion syndrome 24
Crossed pulmonary arteries. an underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature 23
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 23
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications 22
null 22
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 21
Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment 20
null 20
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis 20
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series 19
Non-ceruloplasmin copper identifies a subtype of Alzheimer's disease (CuAD): characterization of the cognitive profile and case of a CuAD patient carrying an RGS7 stop-loss variant 19
Impact of genetic studies on comprehension and treatment of congenital heart disease 18
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene 17
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 17
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures 15
null 14
Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect 13
Prenatal CFAP53-related laterality defect: case report and review of the literature 11
Role of ductus venosus agenesis in right ventricle development 7
Correspondence to “Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease” 7
null 7
Pathophysiology of coarctation of the aorta in dichorionic twins with growth discordance 7
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 4
null 3
Totale 1.639
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Categoria #
all - tutte 6.867
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 6.867
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202074 0 0 0 0 0 10 13 10 9 9 9 14
2020/2021122 17 10 8 4 7 2 2 16 10 10 25 11
2021/2022220 8 6 8 6 29 14 4 24 31 7 50 33
2022/2023372 51 46 38 21 64 30 4 39 36 13 13 17
2023/2024368 15 38 14 31 42 35 20 31 8 54 50 30
2024/2025421 49 126 72 44 90 40 0 0 0 0 0 0
Totale 1.639