IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
EU - Europa 232
NA - Nord America 42
AS - Asia 13
SA - Sud America 3
AF - Africa 2
OC - Oceania 2
Totale 294
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Nazione #
IT - Italia 100
IE - Irlanda 78
US - Stati Uniti d'America 39
NL - Olanda 12
DE - Germania 9
SE - Svezia 8
UA - Ucraina 7
CZ - Repubblica Ceca 6
CH - Svizzera 5
IN - India 5
BR - Brasile 3
TH - Thailandia 3
AU - Australia 2
CA - Canada 2
CN - Cina 2
EG - Egitto 2
ES - Italia 2
AT - Austria 1
BB - Barbados 1
DK - Danimarca 1
MK - Macedonia 1
NO - Norvegia 1
PK - Pakistan 1
RS - Serbia 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 294
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Città #
Dublin 76
Cassano Magnago 26
Bremen 9
Amsterdam 7
Stockholm 7
Milan 6
Turin 6
Novara 5
Rome 5
Vercelli 4
Verona 4
Bethesda 3
Brescia 3
Rio de Janeiro 3
Abano Terme 2
Avezzano 2
Bern 2
Besnate 2
Brisbane 2
Cairo 2
Cork 2
Council Bluffs 2
Cuggiono 2
Florence 2
Kolkata 2
Los Angeles 2
Padova 2
Palermo 2
Pathum Thani 2
Sunnyvale 2
Syracuse 2
Vila-real 2
Wilmington 2
Amhertsburg 1
Ashburn 1
Bengaluru 1
Bridgetown 1
Chennai 1
Chiang Mai 1
Chions 1
Columbus 1
Ferrara 1
Formia 1
Gaglianico 1
Genoa 1
Houston 1
Izmir 1
Jeddah 1
Kavadarci 1
Lahore 1
Lecce 1
Lucca 1
Manhattan 1
McElhattan 1
Monale 1
Naples 1
New York 1
Osimo 1
Oslo 1
Palazzolo dello Stella 1
Pisa 1
Prague 1
Pune 1
Randers 1
San Giovanni Rotondo 1
San Mateo 1
San Sperate 1
Springfield 1
Vienna 1
Totale 238
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Nome #
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders, file 4d262f4c-895d-43b1-9d1f-5c441b750c13 49
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements., file e163b890-7567-c12c-e053-d805fe0a7f21 31
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS), file e163b890-7566-c12c-e053-d805fe0a7f21 23
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization., file e163b890-75dd-c12c-e053-d805fe0a7f21 22
A long contiguous stretch of homozygosity disclosed a novel stag3 biallelic pathogenic variant causing primary ovarian insufficiency: A case report and review of the literature, file e163b890-6f47-c12c-e053-d805fe0a7f21 17
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti., file f3c87144-fbad-4160-b21c-8eac52b4bbb3 17
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature, file e163b890-6f4b-c12c-e053-d805fe0a7f21 16
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia, file e163b890-6f87-c12c-e053-d805fe0a7f21 16
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity, file e163b890-735b-c12c-e053-d805fe0a7f21 16
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height., file e163b88e-fb66-c12c-e053-d805fe0a7f21 15
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis, file e163b890-70a7-c12c-e053-d805fe0a7f21 15
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity, file e163b890-7a6f-c12c-e053-d805fe0a7f21 13
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies, file e163b890-6ffc-c12c-e053-d805fe0a7f21 8
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors, file 0d835787-d23a-4676-841e-15d7caf3f7b6 7
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency, file e163b890-703a-c12c-e053-d805fe0a7f21 6
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants, file f7e36aec-4988-46d5-9f15-22154b69a92b 6
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19, file 99cf5432-aaf4-42ea-9f71-8645c99b6679 3
null, file e163b88f-00f3-c12c-e053-d805fe0a7f21 3
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency, file e163b88e-fa0a-c12c-e053-d805fe0a7f21 2
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD)., file e163b88f-00b0-c12c-e053-d805fe0a7f21 2
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity, file e163b88f-0268-c12c-e053-d805fe0a7f21 2
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing, file e163b88f-05ae-c12c-e053-d805fe0a7f21 2
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort, file e163b88f-478b-c12c-e053-d805fe0a7f21 2
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study., file e163b88f-c7b0-c12c-e053-d805fe0a7f21 1
Totale 294
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Categoria #
all - tutte 1.391
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 1.391
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222 0 0 0 0 0 0 0 0 0 1 1 0
2022/2023169 26 1 0 2 12 6 9 6 88 3 5 11
2023/2024122 6 6 9 9 10 19 12 15 9 16 11 0
Totale 294