Catalogo dei prodotti della ricerca

MARCHIONNI, ENRICA
 Distribuzione geografica
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Continente #
NA - Nord America 598
EU - Europa 470
AS - Asia 231
OC - Oceania 3
SA - Sud America 3
AF - Africa 1
Totale 1.306
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Nazione #
US - Stati Uniti d'America 585
IT - Italia 303
SG - Singapore 105
IN - India 49
SE - Svezia 36
DE - Germania 28
CN - Cina 21
FR - Francia 13
GB - Regno Unito 12
IE - Irlanda 12
IQ - Iraq 12
ID - Indonesia 10
KR - Corea 9
NO - Norvegia 9
CH - Svizzera 8
FI - Finlandia 8
NL - Olanda 8
TR - Turchia 8
CA - Canada 7
JP - Giappone 5
MX - Messico 5
RO - Romania 5
RU - Federazione Russa 5
BG - Bulgaria 4
GR - Grecia 4
AU - Australia 3
BE - Belgio 3
HK - Hong Kong 3
IR - Iran 3
PH - Filippine 3
AT - Austria 2
BR - Brasile 2
CZ - Repubblica Ceca 2
ES - Italia 2
PK - Pakistan 2
PT - Portogallo 2
AR - Argentina 1
BZ - Belize 1
KG - Kirghizistan 1
LT - Lituania 1
MD - Moldavia 1
RS - Serbia 1
UA - Ucraina 1
ZA - Sudafrica 1
Totale 1.306
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Città #
Rome 92
Fairfield 85
Singapore 79
Chandler 47
Woodbridge 42
Ashburn 36
Cambridge 31
Houston 30
Santa Clara 29
Seattle 22
Wilmington 22
San Paolo di Civitate 21
Princeton 16
Lawrence 13
Dublin 12
Milan 12
New York 12
San Diego 12
Mumbai 11
Bremen 10
Jakarta 10
Ann Arbor 9
Boston 9
Oslo 9
Turin 8
Istanbul 7
Millbury 7
Beijing 6
Bologna 6
Pescara 6
Toronto 6
Boardman 5
Mexico City 5
New Delhi 5
Norwalk 5
Pontefract 5
Altdorf bei Nurnberg 4
Athens 4
Cagliari 4
Helsinki 4
Moscow 4
Naples 4
Paris 4
Zhengzhou 4
Amsterdam 3
Andover 3
Bern 3
Brussels 3
Castiglione del Lago 3
Dearborn 3
Hyderabad 3
Imola 3
London 3
Minneapolis 3
Plano 3
Rosciano 3
Sofia 3
Ascoli Piceno 2
Atlanta 2
Baghdad 2
Basildon 2
Bengaluru 2
Bronx 2
Brooklyn 2
Burgthann 2
Caserta 2
Cluj-Napoca 2
Cornedo Vicentino 2
Denver 2
Dorchester 2
Fasano 2
Fornaci di Barga 2
Genoa 2
Julianadorp 2
Los Angeles 2
Makati City 2
Missaglia 2
Prague 2
Pratovecchio 2
Redwood City 2
Reggio Emilia 2
Roseto degli Abruzzi 2
Seongbuk-gu 2
Seongnam 2
Seoul 2
Stuttgart 2
São Paulo 2
Terrassa 2
Tokyo 2
Vicenza 2
Alfianello 1
Antwerp 1
Austell 1
Belize City 1
Berlin 1
Bishkek 1
Brescia 1
Brisbane 1
Bühl 1
Cape Town 1
Totale 889
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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
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study 112
Prenatal exome sequencing in central nervous system anomalies: diagnostic yield and challenges 90
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations 83
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis 79
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance 78
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy 76
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. 75
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis 72
null 65
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 63
Tlr4 t399i polymorphism and endometriosis in a cohort of italian women 62
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review 53
External hydrocephalus as a prenatal feature of Noonan Syndrome 47
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis 41
Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins 40
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells 33
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 33
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 24
Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment 21
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 21
null 20
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 18
Unusual Association of Scn2a Epileptic Encephalopathy with Severe Cortical Dysplasia Detected by Prenatal Mri 18
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene 17
Totale 1.382
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Categoria #
all - tutte 4.630
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 4.630
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020112 0 0 0 0 0 11 29 12 15 9 19 17
2020/2021152 9 7 12 4 5 6 1 31 22 17 31 7
2021/2022230 4 9 18 7 22 14 5 26 27 9 59 30
2022/2023242 31 44 25 17 34 16 1 20 25 6 19 4
2023/2024282 14 31 15 19 30 29 20 32 2 32 46 12
2024/2025263 13 52 49 31 71 47 0 0 0 0 0 0
Totale 1.382