IRIS
GAMBALE, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 431
EU - Europa 211
AS - Asia 201
AF - Africa 23
Totale 866
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Nazione #
US - Stati Uniti d'America 424
IT - Italia 115
SG - Singapore 89
CN - Cina 51
HK - Hong Kong 51
UA - Ucraina 32
CI - Costa d'Avorio 22
NL - Olanda 18
IE - Irlanda 11
RU - Federazione Russa 9
GB - Regno Unito 8
CA - Canada 7
FI - Finlandia 6
DE - Germania 4
ES - Italia 4
VN - Vietnam 4
IL - Israele 3
FR - Francia 2
AT - Austria 1
LU - Lussemburgo 1
PH - Filippine 1
PK - Pakistan 1
SA - Arabia Saudita 1
ZA - Sudafrica 1
Totale 866
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Città #
Chandler 84
Singapore 75
Hong Kong 51
Santa Clara 50
Millbury 18
Ashburn 17
Nanjing 16
Napoli 16
Naples 15
Amsterdam 14
Des Moines 14
Boston 13
Princeton 11
Lawrence 10
Beijing 8
Ottawa 7
San Giorgio A Cremano 7
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
Seattle 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
Islamabad 1
Kronberg 1
Los Angeles 1
Monmouth Junction 1
Munich 1
Ningbo 1
Nuremberg 1
Pompei 1
Redwood City 1
Salerno 1
Sant'Anastasia 1
Shanghai 1
Vienna 1
Washington 1
Woodbridge 1
Xingtai 1
Zhengzhou 1
Totale 534
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Nome #
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 84
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 51
Recommendations regarding splenectomy in hereditary hemolytic anemias 49
Hereditary stomatocytosis: An underdiagnosed condition 49
Diagnosis and management of congenital dyserythropoietic anemias 48
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 48
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 48
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 45
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 45
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 44
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 42
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 40
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 37
New insights on hereditary erythrocyte membrane defects 36
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 32
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 31
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) 28
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 27
Tomographic flow cytometry by digital holography 26
Diagnosis and molecular characterization of a novel α0-thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia 26
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 24
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 20
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 19
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 19
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 15
Totale 933
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Categoria #
all - tutte 4.759
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 4.759
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202016 0 0 0 0 0 0 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
2024/2025236 31 50 0 8 20 56 71 0 0 0 0 0
Totale 933