Archivio istituzionale della ricerca dell'Università degli Studi di Palermo

ANTONA, Vincenzo
 Distribuzione geografica
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Continente #
NA - Nord America 1.942
EU - Europa 548
AS - Asia 216
SA - Sud America 26
AF - Africa 24
OC - Oceania 18
Totale 2.774
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Nazione #
US - Stati Uniti d'America 1.910
IT - Italia 228
CN - Cina 97
DE - Germania 82
FR - Francia 67
GB - Regno Unito 41
CA - Canada 27
AU - Australia 17
IN - India 15
ES - Italia 14
JP - Giappone 14
QA - Qatar 14
BR - Brasile 13
CH - Svizzera 12
ZA - Sudafrica 12
AE - Emirati Arabi Uniti 11
CZ - Repubblica Ceca 10
HK - Hong Kong 10
EG - Egitto 9
IL - Israele 9
KR - Corea 8
NO - Norvegia 8
PL - Polonia 8
BE - Belgio 7
NL - Olanda 7
RO - Romania 7
FI - Finlandia 6
PT - Portogallo 6
RU - Federazione Russa 6
UA - Ucraina 6
CL - Cile 5
GR - Grecia 5
TR - Turchia 5
AR - Argentina 4
HU - Ungheria 4
ID - Indonesia 4
IE - Irlanda 4
PK - Pakistan 4
SA - Arabia Saudita 4
SE - Svezia 4
SG - Singapore 4
AT - Austria 3
CO - Colombia 3
HR - Croazia 3
LT - Lituania 3
MX - Messico 3
RS - Serbia 3
TW - Taiwan 3
VN - Vietnam 3
CY - Cipro 2
DK - Danimarca 2
GM - Gambi 2
IR - Iran 2
BA - Bosnia-Erzegovina 1
CU - Cuba 1
EC - Ecuador 1
GE - Georgia 1
IQ - Iraq 1
KH - Cambogia 1
LU - Lussemburgo 1
MO - Macao, regione amministrativa speciale della Cina 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PR - Porto Rico 1
TH - Thailandia 1
TN - Tunisia 1
Totale 2.774
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Città #
Fairfield 264
Ashburn 210
Seattle 152
Houston 151
Woodbridge 148
Santa Cruz 116
Cambridge 100
Des Moines 91
Palermo 81
Wilmington 72
Buffalo 63
Ann Arbor 51
Beijing 33
Mountain View 30
Chicago 21
San Diego 20
Las Vegas 17
Boardman 16
Doha 14
Rome 14
Guiyang 12
Clearwater 11
Dallas 10
Shanghai 10
Muizenberg 9
Bologna 8
Newcastle upon Tyne 8
Riva 8
Absecon 7
Ephrata 7
Fuzhou 7
Los Angeles 7
Cairo 6
Columbus 6
London 6
New York 6
Toronto 6
Bari 5
Brussels 5
Dearborn 5
Ma On Shan 5
Oslo 5
Ottawa 5
Provo 5
Bengaluru 4
Catania 4
Dublin 4
Focsani 4
Helsinki 4
Henderson 4
Iowa City 4
Jakarta 4
Lisbon 4
Maple 4
Nanjing 4
Prague 4
San Francisco 4
Torre Del Greco 4
Wuhan 4
Auburn 3
Belgrade 3
Bergen 3
Budapest 3
Buenos Aires 3
Council Bluffs 3
Gangnam-gu 3
Greensboro 3
Grenoble 3
Hamburg 3
Mazara del Vallo 3
Montpellier 3
Paris 3
Phoenix 3
Stockholm 3
Trapani 3
Warsaw 3
Amsterdam 2
Ashland 2
Atlanta 2
Augusta 2
Bentley 2
Bogotá 2
Boston 2
Boulder 2
Central 2
Changsha 2
Colognola ai Colli 2
Cremona 2
Deiva Marina 2
El Campello 2
Esslingen am Neckar 2
Friedrichsthal 2
Geneva 2
Glasgow 2
Hartford 2
Hermitage 2
Jersey City 2
Kingston 2
Kleczew 2
Lentini 2
Totale 1.992
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Nome #
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case, file e3ad8916-bb96-da0e-e053-3705fe0a2b96 630
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1, file e3ad891d-b27f-da0e-e053-3705fe0a2b96 285
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient, file e3ad8923-54e7-da0e-e053-3705fe0a2b96 213
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome, file e3ad8923-4c1d-da0e-e053-3705fe0a2b96 204
Intellectual disabilitiy in developmental age, file e3ad8918-3f5b-da0e-e053-3705fe0a2b96 187
Etiological heterogeneity and clinical variability in newborns with esophageal atresia, file e3ad891c-3f63-da0e-e053-3705fe0a2b96 184
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review, file e3ad8928-87a6-da0e-e053-3705fe0a2b96 169
NF1 microdeletion syndrome: Case report of two new patients, file e3ad8921-7976-da0e-e053-3705fe0a2b96 151
Recognizable neonatal clinical features of aplasia cutis congenita, file e3ad8921-8952-da0e-e053-3705fe0a2b96 99
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, file e3ad8923-0df4-da0e-e053-3705fe0a2b96 99
A novel cct5 missense variant associated with early onset motor neuropathy, file e3ad8923-23f4-da0e-e053-3705fe0a2b96 76
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report, file e3ad8922-fd95-da0e-e053-3705fe0a2b96 71
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up, file e3ad8927-39eb-da0e-e053-3705fe0a2b96 60
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes, file e3ad8926-e0a1-da0e-e053-3705fe0a2b96 54
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit, file e3ad8928-c899-da0e-e053-3705fe0a2b96 51
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients, file e3ad8926-d66f-da0e-e053-3705fe0a2b96 49
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town, file e3ad8927-db9b-da0e-e053-3705fe0a2b96 49
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism, file e3ad891b-d4ca-da0e-e053-3705fe0a2b96 35
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS, file e3ad8922-c70b-da0e-e053-3705fe0a2b96 22
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report, file e3ad8927-8f92-da0e-e053-3705fe0a2b96 16
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles, file e3ad8928-2df5-da0e-e053-3705fe0a2b96 14
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome, file 65e5e020-1a6f-45f3-b527-49ee5a44c0a6 11
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene, file ca69d97b-3150-446b-9e67-e8256463b68c 10
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene, file 0b065263-e88a-4765-bcb7-b146c25c1d54 9
A novel NF1 mutation in a pediatric patient with renal artery aneurysm, file 2da65188-e373-4d59-8e5f-846ed4d726fe 9
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder, file 4eab4bb5-8eb6-46bd-ab0c-be72ee4f3f7a 9
The child with overgrowth between clinical variability and genetic heterogeneity, file e3ad8922-4b67-da0e-e053-3705fe0a2b96 9
Follow-Up to Ensure Continuity of Care and Support Preventive Care, file 71261c3b-a70f-4b25-9c06-0ce03369c28e 8
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception, file ceaf3e5f-9ffe-41a0-a026-bcf451c36233 8
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS, file e3ad891e-a527-da0e-e053-3705fe0a2b96 8
The impact of genetic diseases on neonatal and pediatric care, file e3ad8921-43f2-da0e-e053-3705fe0a2b96 6
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability., file e3ad891d-37e1-da0e-e053-3705fe0a2b96 5
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion, file e3ad8922-2c25-da0e-e053-3705fe0a2b96 5
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome, file daf44cb1-3f97-4b5a-b266-5618d71cbe6c 4
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability., file e3ad8923-fa31-da0e-e053-3705fe0a2b96 4
Quando l’amnios si rompe troppo presto e… da solo, file c8dc0a58-5210-4b58-bda4-a93f0da91466 3
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION, file e3ad8919-b936-da0e-e053-3705fe0a2b96 3
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster, file 14c27110-4f23-47d0-afc5-87e1399539e3 2
La Bioetica sul campo: una sfida per il neonatologo e il pediatra, file 6c70e9b4-bcf5-424d-bc41-4ffbddb2e7a6 2
Clinical and genetic approach in the characterization of newborns with anorectal malformation, file e3ad8926-af14-da0e-e053-3705fe0a2b96 2
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e3ad8926-f30c-da0e-e053-3705fe0a2b96 2
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review, file e3ad8924-d0ae-da0e-e053-3705fe0a2b96 1
Totale 2.838
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Categoria #
all - tutte 8.826
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 8.826
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201961 0 0 0 0 0 0 0 0 0 0 35 26
2019/2020336 23 18 24 44 26 34 21 31 48 19 28 20
2020/2021766 17 25 42 104 200 61 103 45 33 49 51 36
2021/2022517 48 37 20 42 40 32 25 23 30 39 125 56
2022/2023566 23 21 115 74 38 46 112 18 15 23 63 18
2023/2024337 23 21 42 34 35 43 53 45 23 11 7 0
Totale 2.838