IRIS
GAMBALE, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 390
EU - Europa 198
AS - Asia 132
AF - Africa 23
Totale 743
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Nazione #
US - Stati Uniti d'America 384
IT - Italia 115
SG - Singapore 76
CN - Cina 47
UA - Ucraina 32
CI - Costa d'Avorio 22
NL - Olanda 16
IE - Irlanda 11
GB - Regno Unito 8
CA - Canada 6
FI - Finlandia 6
ES - Italia 4
VN - Vietnam 4
DE - Germania 3
IL - Israele 3
FR - Francia 2
LU - Lussemburgo 1
PH - Filippine 1
SA - Arabia Saudita 1
ZA - Sudafrica 1
Totale 743
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Città #
Chandler 84
Singapore 63
Santa Clara 20
Millbury 18
Ashburn 16
Nanjing 16
Napoli 16
Naples 15
Amsterdam 14
Des Moines 14
Boston 13
Princeton 11
Lawrence 10
Beijing 8
San Giorgio A Cremano 7
Ottawa 6
Wilmington 6
Genova 5
Marano 5
San Mateo 5
Dong Ket 4
Fairfield 4
Hebei 4
Rome 4
Haifa 3
Lessolo 3
Nanchang 3
San Cesareo 3
Shenyang 3
Tianjin 3
Barcelona 2
Changsha 2
Dublin 2
Formia 2
Jiaxing 2
Jinan 2
Milan 2
Newcastle Upon Tyne 2
Nocera Inferiore 2
Norwalk 2
Zaragoza 2
Altamura 1
Augusta 1
Bournemouth 1
Cape Town 1
Castellammare di Stabia 1
Catanzaro 1
Cutrofiano 1
Dallas 1
Edinburgh 1
Frankfurt am Main 1
Helsinki 1
Houston 1
Kronberg 1
Los Angeles 1
Monmouth Junction 1
Munich 1
Ningbo 1
Pompei 1
Redwood City 1
Salerno 1
Sant'Anastasia 1
Seattle 1
Washington 1
Woodbridge 1
Totale 432
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Nome #
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 77
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 46
Recommendations regarding splenectomy in hereditary hemolytic anemias 45
Hereditary stomatocytosis: An underdiagnosed condition 45
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 44
Diagnosis and management of congenital dyserythropoietic anemias 43
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 43
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 40
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 38
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 38
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 38
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 36
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 33
New insights on hereditary erythrocyte membrane defects 31
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 26
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 26
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621) 23
Diagnosis and molecular characterization of a novel α0-thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia 22
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 22
Tomographic flow cytometry by digital holography 19
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 19
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 15
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 14
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 12
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 11
Totale 806
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Categoria #
all - tutte 4.167
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 4.167
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202021 0 0 0 0 3 2 0 2 0 2 9 3
2020/202198 2 2 16 12 5 9 12 2 4 9 12 13
2021/2022134 1 1 2 9 0 1 4 6 8 4 50 48
2022/2023185 23 37 12 3 14 14 1 18 30 15 17 1
2023/2024130 5 28 17 14 1 4 1 25 3 1 22 9
2024/2025109 31 50 0 8 20 0 0 0 0 0 0 0
Totale 806