Archivio istituzionale della ricerca dell'Università degli Studi di Palermo

ANTONA, Vincenzo
 Distribuzione geografica
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Continente #
NA - Nord America 3.151
EU - Europa 1.509
AS - Asia 1.408
SA - Sud America 261
AF - Africa 46
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.378
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Nazione #
US - Stati Uniti d'America 3.075
SG - Singapore 517
RU - Federazione Russa 483
IT - Italia 436
CN - Cina 275
BR - Brasile 208
HK - Hong Kong 165
VN - Vietnam 137
BD - Bangladesh 111
PL - Polonia 101
DE - Germania 90
GB - Regno Unito 78
FR - Francia 69
FI - Finlandia 58
CA - Canada 40
IE - Irlanda 40
IN - India 40
SE - Svezia 37
JP - Giappone 33
AR - Argentina 22
KR - Corea 20
IQ - Iraq 19
RO - Romania 19
NL - Olanda 18
ZA - Sudafrica 18
PK - Pakistan 12
PT - Portogallo 12
TR - Turchia 11
UA - Ucraina 11
AT - Austria 10
BE - Belgio 10
MX - Messico 10
VE - Venezuela 10
ES - Italia 9
UZ - Uzbekistan 8
JO - Giordania 7
EC - Ecuador 6
JM - Giamaica 6
AE - Emirati Arabi Uniti 5
BG - Bulgaria 5
ID - Indonesia 5
KG - Kirghizistan 5
MY - Malesia 5
PE - Perù 5
CH - Svizzera 4
GT - Guatemala 4
KZ - Kazakistan 4
MA - Marocco 4
SA - Arabia Saudita 4
CL - Cile 3
CO - Colombia 3
CR - Costa Rica 3
ET - Etiopia 3
HN - Honduras 3
IR - Iran 3
KE - Kenya 3
LT - Lituania 3
PH - Filippine 3
PY - Paraguay 3
RS - Serbia 3
TH - Thailandia 3
TN - Tunisia 3
AU - Australia 2
AZ - Azerbaigian 2
BH - Bahrain 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
GE - Georgia 2
GH - Ghana 2
HR - Croazia 2
HU - Ungheria 2
IL - Israele 2
NI - Nicaragua 2
NO - Norvegia 2
NP - Nepal 2
SN - Senegal 2
AO - Angola 1
BZ - Belize 1
DM - Dominica 1
EU - Europa 1
GD - Grenada 1
GL - Groenlandia 1
GR - Grecia 1
KH - Cambogia 1
LB - Libano 1
LY - Libia 1
MD - Moldavia 1
MG - Madagascar 1
MN - Mongolia 1
MQ - Martinica 1
NG - Nigeria 1
OM - Oman 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RW - Ruanda 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 6.376
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Città #
Ashburn 472
Singapore 309
Fairfield 301
Chandler 234
Woodbridge 166
Hong Kong 157
San Jose 156
Houston 150
Seattle 148
Wilmington 119
Cambridge 112
Palermo 104
Ann Arbor 92
Zgierz 84
Moscow 79
Council Bluffs 78
Beijing 60
Los Angeles 60
Ho Chi Minh City 47
Medford 47
New York 46
Des Moines 44
Lauterbourg 40
Altamura 36
Hanoi 35
Dallas 34
Helsinki 33
Tokyo 33
Chicago 32
Dublin 31
Princeton 30
Hefei 28
Milan 28
Boardman 27
Lawrence 27
London 27
San Diego 27
The Dalles 27
Santa Clara 24
São Paulo 23
Munich 20
Buffalo 19
Seoul 16
Ludwigshafen am Rhein 15
Frankfurt am Main 13
Johannesburg 13
Montreal 13
Nanjing 13
Phoenix 13
Warsaw 13
Brussels 10
Falls Church 10
Guangzhou 10
Mumbai 10
Orem 10
Rome 10
Toronto 10
Da Nang 9
Lappeenranta 9
Nuremberg 9
Columbus 8
Dearborn 8
Denver 8
Jinan 8
Tianjin 8
Atlanta 7
Chennai 7
Tashkent 7
Amman 6
Boston 6
Catania 6
Hebei 6
Memphis 6
Rio de Janeiro 6
San Paolo di Civitate 6
Stockholm 6
Baghdad 5
Bishkek 5
Haiphong 5
Jiaxing 5
Kilburn 5
Poplar 5
Pune 5
Shanghai 5
Sofia 5
Vancouver 5
Ankara 4
Belo Horizonte 4
Bremen 4
Brooklyn 4
Drogheda 4
Gravataí 4
Guatemala City 4
Jacksonville 4
Kingston 4
Manchester 4
Naples 4
Ningbo 4
Porto 4
Porto Alegre 4
Totale 4.067
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Nome #
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome 340
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 287
A novel cct5 missense variant associated with early onset motor neuropathy 258
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 253
Etiological heterogeneity and clinical variability in newborns with esophageal atresia 231
Intellectual disabilitiy in developmental age 211
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. 205
NF1 microdeletion syndrome: Case report of two new patients 200
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 192
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION 189
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case 188
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion 188
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit 183
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 177
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 173
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 163
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 162
Recognizable neonatal clinical features of aplasia cutis congenita 156
The impact of genetic diseases on neonatal and pediatric care 152
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation 147
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 140
Clinical and genetic approach in the characterization of newborns with anorectal malformation 135
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS 134
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients 132
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome 130
The child with overgrowth between clinical variability and genetic heterogeneity 130
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 130
La Bioetica sul campo: una sfida per il neonatologo e il pediatra 129
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease 127
A novel NF1 mutation in a pediatric patient with renal artery aneurysm 120
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene 120
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report 119
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town 116
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 115
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome 113
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS 111
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 108
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 99
Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies 98
Quando l’amnios si rompe troppo presto e… da solo 92
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 84
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder 68
A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine 35
Self-limited Neonatal Epilepsy associated with global developmental delay and high-threshold sensory profile: A novel KCNQ3 de novo variant unusually located in the voltage sensor S4 segment of the Kv7.3 channel subunit 15
Totale 6.655
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Categoria #
all - tutte 25.624
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 25.624
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202141 0 0 0 0 0 0 0 0 0 0 0 41
2021/2022514 40 79 15 21 16 31 33 20 59 72 32 96
2022/2023738 91 148 22 77 63 103 40 59 69 8 44 14
2023/2024348 11 45 16 34 27 72 38 25 3 12 20 45
2024/2025819 11 48 51 67 44 24 48 50 66 118 95 197
2025/20262.903 273 103 165 257 309 408 420 290 159 227 234 58
Totale 6.655