Distribuzione geografica
Continente #
NA - Nord America 1.127
EU - Europa 712
AS - Asia 240
AF - Africa 33
SA - Sud America 19
OC - Oceania 13
Totale 2.144
Nazione #
US - Stati Uniti d'America 1.104
IT - Italia 401
DE - Germania 63
VN - Vietnam 43
IN - India 39
RU - Federazione Russa 37
NL - Olanda 34
CZ - Repubblica Ceca 33
CN - Cina 31
FR - Francia 26
GB - Regno Unito 25
AE - Emirati Arabi Uniti 22
IQ - Iraq 22
UA - Ucraina 20
CA - Canada 17
FI - Finlandia 16
IR - Iran 16
JP - Giappone 16
AU - Australia 13
SE - Svezia 13
EG - Egitto 11
BE - Belgio 9
ES - Italia 9
ZA - Sudafrica 9
BR - Brasile 8
TR - Turchia 7
TZ - Tanzania 7
MY - Malesia 6
AM - Armenia 5
HK - Hong Kong 5
KR - Corea 5
AR - Argentina 4
DZ - Algeria 4
GR - Grecia 4
ID - Indonesia 4
MX - Messico 4
TW - Taiwan 4
LB - Libano 3
RO - Romania 3
TH - Thailandia 3
VE - Venezuela 3
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
EE - Estonia 2
IL - Israele 2
LV - Lettonia 2
PK - Pakistan 2
PL - Polonia 2
PT - Portogallo 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
AT - Austria 1
BF - Burkina Faso 1
BG - Bulgaria 1
BY - Bielorussia 1
DK - Danimarca 1
GE - Georgia 1
HN - Honduras 1
IE - Irlanda 1
JM - Giamaica 1
KG - Kirghizistan 1
MW - Malawi 1
NO - Norvegia 1
RS - Serbia 1
SG - Singapore 1
Totale 2.144
Città #
Santa Cruz 168
Cagliari 108
Fairfield 81
Ashburn 65
Seattle 55
Houston 44
Rome 41
Dong Ket 39
Buffalo 30
Chicago 30
Los Angeles 28
Cambridge 27
Frankfurt am Main 26
Milan 24
Boardman 23
Wilmington 22
Kirkuk 21
Ann Arbor 20
Woodbridge 20
Shanghai 17
Helsinki 15
Mountain View 15
Las Vegas 14
San Diego 14
New York 12
Sesto Fiorentino 11
Bari 10
Naples 10
Portland 9
Amsterdam 8
Council Bluffs 8
Mumbai 8
Clearwater 7
Dar es Salaam 7
Miami 6
Muizenberg 6
Ploaghe 6
San Jose 6
Topanga 6
Dallas 5
Delhi 5
Florence 5
Henderson 5
Melbourne 5
Saint Petersburg 5
Sydney 5
Tempio Pausania 5
Yerevan 5
Assemini 4
Auburn 4
Kyoto 4
London 4
Mechelen 4
Sanluri 4
Scranton 4
Ahmedabad 3
Ales 3
Atlanta 3
Bangkok 3
Beachwood 3
Brussels 3
Central 3
Crugers 3
Fort Collins 3
Granger 3
Hanau 3
L’Aquila 3
Matera 3
Moscow 3
Padova 3
Pisa 3
Posadas 3
Prague 3
Recife 3
Rende 3
Rotterdam 3
San Donato Milanese 3
Silverton 3
Taipei 3
Tehran 3
Toronto 3
Ancona 2
Andover 2
Ankara 2
Athens 2
Beirut 2
Belluno 2
Borås 2
Brooklyn 2
Bucharest 2
Cairo 2
Calgary 2
Campinas 2
Casalecchio di Reno 2
Catania 2
Darby 2
Flushing 2
Frattamaggiore 2
Frosinone 2
Genoa 2
Totale 1.256
Nome #
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions, file e2f56eda-8dde-3eaf-e053-3a05fe0a5d97 163
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation, file e2f56ed9-77c5-3eaf-e053-3a05fe0a5d97 132
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH, file e2f56ed9-638d-3eaf-e053-3a05fe0a5d97 128
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach, file e2f56ed9-9458-3eaf-e053-3a05fe0a5d97 111
Genetic counseling during COVID-19 pandemic: Tuscany experience, file e2f56ed9-8a09-3eaf-e053-3a05fe0a5d97 93
A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study, file e2f56ed9-743e-3eaf-e053-3a05fe0a5d97 89
Diagnostic implications of genetic copy number variation in epilepsy plus, file e2f56ed9-85aa-3eaf-e053-3a05fe0a5d97 86
De novo unbalanced translocations have a complex history/aetiology, file e2f56ed9-6889-3eaf-e053-3a05fe0a5d97 84
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib, file e2f56eda-50bd-3eaf-e053-3a05fe0a5d97 83
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation, file e2f56ed9-4f78-3eaf-e053-3a05fe0a5d97 72
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism, file e2f56ed9-9807-3eaf-e053-3a05fe0a5d97 70
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes, file 207d7df9-a947-4ee3-9ca0-af1df272377f 69
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome, file e2f56ed9-eb9f-3eaf-e053-3a05fe0a5d97 69
Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM, file e2f56ed9-a246-3eaf-e053-3a05fe0a5d97 61
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice, file e2f56eda-68c3-3eaf-e053-3a05fe0a5d97 61
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases, file e2f56ed9-688f-3eaf-e053-3a05fe0a5d97 59
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis, file b00c257b-23a3-4c0b-a024-764d5c320771 54
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins, file e2f56ed9-6395-3eaf-e053-3a05fe0a5d97 53
SLMSuite: a suite of algorithms for segmenting genomic profiles, file e2f56ed9-6392-3eaf-e053-3a05fe0a5d97 50
Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review, file e2f56ed9-ae2a-3eaf-e053-3a05fe0a5d97 50
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis, file e2f56ed9-ae28-3eaf-e053-3a05fe0a5d97 48
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype, file e2f56ed9-afd1-3eaf-e053-3a05fe0a5d97 48
Determinants of vitamin D levels in children and adolescents with Down syndrome, file e2f56ed9-75a1-3eaf-e053-3a05fe0a5d97 47
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation, file e2f56ed9-7608-3eaf-e053-3a05fe0a5d97 45
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G, file a8ad3af2-2038-446b-b2fd-f0e3f0503d1c 42
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment, file e2f56ed9-ddb6-3eaf-e053-3a05fe0a5d97 40
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection, file e2f56eda-8b72-3eaf-e053-3a05fe0a5d97 36
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature, file e2f56eda-a8b9-3eaf-e053-3a05fe0a5d97 26
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population, file e2f56eda-a125-3eaf-e053-3a05fe0a5d97 19
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19, file f18bfd47-c9fd-44d2-9c43-bac6f10abe9b 17
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways, file e2f56eda-b56e-3eaf-e053-3a05fe0a5d97 15
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2, file e2f56eda-7199-3eaf-e053-3a05fe0a5d97 14
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females, file 383200a4-4768-4f22-b68b-e149bb506ac7 13
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder, file e2f56eda-9a8f-3eaf-e053-3a05fe0a5d97 12
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies, file 9fe124b5-1704-4ba5-87a5-923792b6bf0d 10
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay, file 13afcd02-3302-4f9a-96c5-c88a9ec26cc8 9
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome, file 2ba2009a-1558-4209-9d61-68d7204ddb58 7
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder, file e2f56ed9-743d-3eaf-e053-3a05fe0a5d97 4
MICRORNAS PROFILE IN PAEDIATRIC GBMS, file e2f56ed9-77be-3eaf-e053-3a05fe0a5d97 4
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report, file e2f56ed9-dc9f-3eaf-e053-3a05fe0a5d97 4
Decision trees to evaluate the risk of developing multiple sclerosis, file 43795037-e08d-455c-8bc3-67e839449d78 3
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia?, file e2f56ed9-6885-3eaf-e053-3a05fe0a5d97 3
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells, file 51604ab0-c0be-4bad-9aef-fb08011fdb36 2
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching, file e2f56ed3-b8ba-3eaf-e053-3a05fe0a5d97 2
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation, file e2f56ed9-4f7c-3eaf-e053-3a05fe0a5d97 2
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?, file e2f56ed9-6328-3eaf-e053-3a05fe0a5d97 2
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency, file e2f56ed9-638f-3eaf-e053-3a05fe0a5d97 2
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay, file e2f56ed9-6397-3eaf-e053-3a05fe0a5d97 2
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?, file e2f56ed9-6398-3eaf-e053-3a05fe0a5d97 2
Small supernumerary marker chromosomes: A legacy of trisomy rescue?, file e2f56ed9-6399-3eaf-e053-3a05fe0a5d97 2
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency, file e2f56ed9-6886-3eaf-e053-3a05fe0a5d97 2
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis, file e2f56ed9-6888-3eaf-e053-3a05fe0a5d97 2
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos, file e2f56ed9-688d-3eaf-e053-3a05fe0a5d97 2
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome, file e2f56ed9-6893-3eaf-e053-3a05fe0a5d97 2
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders, file e2f56ed9-6894-3eaf-e053-3a05fe0a5d97 2
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type, file e2f56ed9-6895-3eaf-e053-3a05fe0a5d97 2
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion, file e2f56ed9-8542-3eaf-e053-3a05fe0a5d97 2
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review, file e2f56ed9-8759-3eaf-e053-3a05fe0a5d97 2
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations, file e2f56ed9-93e6-3eaf-e053-3a05fe0a5d97 2
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family, file e2f56ed9-4f0a-3eaf-e053-3a05fe0a5d97 1
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene, file e2f56ed9-4f79-3eaf-e053-3a05fe0a5d97 1
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients, file e2f56ed9-4f7b-3eaf-e053-3a05fe0a5d97 1
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome, file e2f56ed9-4f7d-3eaf-e053-3a05fe0a5d97 1
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene, file e2f56ed9-4fac-3eaf-e053-3a05fe0a5d97 1
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012, file e2f56ed9-4fad-3eaf-e053-3a05fe0a5d97 1
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25, file e2f56ed9-5440-3eaf-e053-3a05fe0a5d97 1
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3gene, file e2f56ed9-5442-3eaf-e053-3a05fe0a5d97 1
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome, file e2f56ed9-5443-3eaf-e053-3a05fe0a5d97 1
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s, file e2f56ed9-5445-3eaf-e053-3a05fe0a5d97 1
Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia, file e2f56ed9-5b6c-3eaf-e053-3a05fe0a5d97 1
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis, file e2f56ed9-61e4-3eaf-e053-3a05fe0a5d97 1
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication, file e2f56ed9-6324-3eaf-e053-3a05fe0a5d97 1
Bone mineral status and metabolism in patients with Williams-Beuren syndrome, file e2f56ed9-6325-3eaf-e053-3a05fe0a5d97 1
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia, file e2f56ed9-6329-3eaf-e053-3a05fe0a5d97 1
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting, file e2f56ed9-638b-3eaf-e053-3a05fe0a5d97 1
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere, file e2f56ed9-638c-3eaf-e053-3a05fe0a5d97 1
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity, file e2f56ed9-6390-3eaf-e053-3a05fe0a5d97 1
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition, file e2f56ed9-6394-3eaf-e053-3a05fe0a5d97 1
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation, file e2f56ed9-639c-3eaf-e053-3a05fe0a5d97 1
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome, file e2f56ed9-63f6-3eaf-e053-3a05fe0a5d97 1
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis, file e2f56ed9-65f3-3eaf-e053-3a05fe0a5d97 1
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene, file e2f56ed9-6882-3eaf-e053-3a05fe0a5d97 1
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?, file e2f56ed9-6887-3eaf-e053-3a05fe0a5d97 1
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome, file e2f56ed9-688a-3eaf-e053-3a05fe0a5d97 1
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis, file e2f56ed9-688c-3eaf-e053-3a05fe0a5d97 1
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene, file e2f56ed9-688e-3eaf-e053-3a05fe0a5d97 1
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective, file e2f56ed9-6892-3eaf-e053-3a05fe0a5d97 1
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype, file e2f56ed9-6a4a-3eaf-e053-3a05fe0a5d97 1
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia, file e2f56ed9-6a76-3eaf-e053-3a05fe0a5d97 1
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains, file e2f56ed9-6b2e-3eaf-e053-3a05fe0a5d97 1
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts, file e2f56ed9-7370-3eaf-e053-3a05fe0a5d97 1
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3, file e2f56ed9-7590-3eaf-e053-3a05fe0a5d97 1
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia, file e2f56ed9-75a4-3eaf-e053-3a05fe0a5d97 1
Bone mineral status in children and adolescents with klinefelter syndrome, file e2f56ed9-7605-3eaf-e053-3a05fe0a5d97 1
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency, file e2f56ed9-83f1-3eaf-e053-3a05fe0a5d97 1
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia, file e2f56ed9-853d-3eaf-e053-3a05fe0a5d97 1
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes, file e2f56ed9-853e-3eaf-e053-3a05fe0a5d97 1
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1, file e2f56ed9-8541-3eaf-e053-3a05fe0a5d97 1
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes, file e2f56ed9-875b-3eaf-e053-3a05fe0a5d97 1
Totale 2.180
Categoria #
all - tutte 8.373
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 8.373

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021426 0 0 0 90 21 67 38 41 38 37 40 54
2021/2022628 67 31 12 26 43 35 58 30 24 36 186 80
2022/2023704 70 46 163 74 45 27 40 45 42 51 39 62
2023/2024442 27 66 43 43 51 44 28 64 52 24 0 0
Totale 2.200