Catalogo dei prodotti della ricerca

GUADAGNOLO, DANIELE
 Distribuzione geografica
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Continente #
NA - Nord America 221
EU - Europa 215
AS - Asia 50
SA - Sud America 2
AF - Africa 1
OC - Oceania 1
Totale 490
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Nazione #
US - Stati Uniti d'America 217
IT - Italia 126
SE - Svezia 25
IN - India 23
SG - Singapore 17
DE - Germania 10
FR - Francia 10
IE - Irlanda 8
FI - Finlandia 7
BG - Bulgaria 6
KR - Corea 6
CH - Svizzera 5
RO - Romania 5
ES - Italia 3
GB - Regno Unito 3
MX - Messico 3
PT - Portogallo 3
CN - Cina 2
GR - Grecia 2
AR - Argentina 1
AU - Australia 1
BE - Belgio 1
BR - Brasile 1
CA - Canada 1
IR - Iran 1
PH - Filippine 1
RS - Serbia 1
TG - Togo 1
Totale 490
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Città #
Rome 47
Fairfield 28
Chandler 23
New York 16
Ashburn 15
Woodbridge 12
Mumbai 11
San Paolo di Civitate 11
Seattle 10
Houston 9
Bremen 8
Dublin 8
Milan 8
Wilmington 8
Cambridge 7
Princeton 7
Helsinki 6
Lawrence 6
Sofia 6
Paris 5
Turin 5
Ann Arbor 4
Boston 4
San Diego 4
Singapore 4
Andover 3
Mexico City 3
Minneapolis 3
Athens 2
Bern 2
Bronx 2
Caserta 2
Cluj-Napoca 2
Ferrara 2
Formello 2
Los Angeles 2
Millbury 2
Porto 2
Redwood City 2
San Vito al Torre 2
Sannois 2
Seongnam 2
Seoul 2
Vicenza 2
Alfianello 1
Avellino 1
Beijing 1
Berlin 1
Bologna 1
Braga 1
Brussels 1
Cisterna di Latina 1
Davao City 1
Federal 1
Frosinone 1
Hobart 1
Hounslow 1
Lappeenranta 1
Lomé 1
London 1
Mentana 1
Montebelluna 1
Norwalk 1
Novara 1
Ravenna 1
Sant'Oreste 1
Secaucus 1
São Paulo 1
Tivoli 1
Toronto 1
Walsall 1
Yuncheng 1
Totale 341
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Nome #
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. 68
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations 68
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy 62
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 55
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review 47
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 32
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 31
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis 30
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells 25
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters 17
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome 16
Case report. interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2. are all heterozygous born equals 14
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 13
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene 10
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 9
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis 9
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 8
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 8
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment 6
Prenatal CFAP53-related laterality defect: case report and review of the literature 1
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 1
Totale 530
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Categoria #
all - tutte 2.045
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 2.045
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202025 0 0 0 0 0 0 10 4 6 2 1 2
2020/202179 3 1 0 0 3 1 0 17 10 15 22 7
2021/2022114 3 5 10 7 10 8 4 16 9 2 27 13
2022/2023159 14 25 17 11 23 9 2 15 16 7 9 11
2023/2024153 6 20 12 19 26 21 1 12 3 24 9 0
Totale 530