IRIS
PALKA BAYARD DE VOLO, CHIARA
 Distribuzione geografica
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Continente #
NA - Nord America 1.076
EU - Europa 972
AS - Asia 615
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
SA - Sud America 1
Totale 2.668
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Nazione #
US - Stati Uniti d'America 1.071
CN - Cina 214
IT - Italia 213
SG - Singapore 162
IE - Irlanda 147
UA - Ucraina 147
SE - Svezia 107
GB - Regno Unito 105
TR - Turchia 82
DE - Germania 80
IN - India 76
VN - Vietnam 71
FR - Francia 66
FI - Finlandia 38
RU - Federazione Russa 23
BE - Belgio 13
CZ - Repubblica Ceca 12
RO - Romania 11
CA - Canada 5
NL - Olanda 5
GR - Grecia 4
AU - Australia 3
HK - Hong Kong 2
IL - Israele 2
KR - Corea 2
BR - Brasile 1
EU - Europa 1
GE - Georgia 1
IR - Iran 1
JP - Giappone 1
LT - Lituania 1
TW - Taiwan 1
Totale 2.668
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Città #
Chandler 223
Jacksonville 170
Singapore 145
Dublin 144
Chieti 86
Southend 83
Dong Ket 71
Dearborn 70
Princeton 66
Nanjing 58
Beijing 55
Izmir 52
Ann Arbor 43
Boardman 38
Ashburn 37
Santa Clara 37
Altamura 29
Cambridge 27
Wilmington 23
Munich 16
Nanchang 16
Helsinki 14
Woodbridge 13
Brno 12
Los Angeles 12
Tianjin 12
Brussels 11
Shenyang 11
Hangzhou 9
Hebei 9
Kunming 9
Bangalore 7
Grafing 7
Washington 7
Jiaxing 6
Changsha 5
Bucharest 4
Düsseldorf 4
Grevenbroich 4
Jinan 4
Espoo 3
Guangzhou 3
Hefei 3
Melegnano 3
New York 3
Pescara 3
Redwood City 3
Romola 3
Voronezh 3
Zhengzhou 3
Abu Sinan 2
Atessa 2
Auburn Hills 2
Augusta 2
Hong Kong 2
Lanzhou 2
Montesilvano 2
Montréal 2
Mumbai 2
Newcastle 2
Norwalk 2
Nuremberg 2
Seoul 2
Stockholm 2
Teramo 2
Toronto 2
Vasto 2
Waanrode 2
Andover 1
Ardabil 1
Atlanta 1
Bologna 1
Chongqing 1
Clifton 1
Collecorvino 1
Delhi 1
Edinburgh 1
Fairfield 1
Fano 1
Farnborough 1
Fortaleza 1
Francavilla Al Mare 1
Groningen 1
Harbin 1
Istanbul 1
Jiyuan 1
Kaunas 1
Kocaeli 1
La Canada Flintridge 1
Monmouth Junction 1
Napoli 1
Ningbo 1
Orange 1
Padova 1
Pavia 1
Pievepelago 1
Portland 1
Porto 1
Richmond Hill 1
Rome 1
Totale 1.747
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Nome #
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 147
Discovering a familial Xp11.4 microduplication: Does the mother matter? 116
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 113
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 109
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 105
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 104
A new case of pure partial 7q duplication 96
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. 95
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 95
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs 93
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 92
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. 91
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region 90
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 88
I nuovi orizzonti della diagnosi prenatale 87
De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects. 87
Cystic hygroma and mid-trimester maternal serum screening. 86
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures 86
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. 81
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 77
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay 74
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus 73
Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: A prospective feasibility study on a series of 172 pregnant women 72
Screening biochimici prenatali: l’esperienza del tri-test in 17.869 gravidanze della regione Abruzzo. 71
Non-invasive prenatal screening: a 20-year experience in Italy 71
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome 71
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 68
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 67
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 67
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. 67
Reticulate vascular lesions and a large head. 60
A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties 41
Neonatal diagnosis of circumferential skin creases 18
Totale 2.758
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Categoria #
all - tutte 9.750
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 9.750
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020340 0 0 0 0 57 68 77 36 21 26 52 3
2020/2021336 29 6 35 2 18 44 7 4 77 23 12 79
2021/2022134 3 5 3 6 12 11 3 13 9 0 19 50
2022/2023582 42 96 36 59 61 111 29 49 60 3 25 11
2023/2024249 17 9 12 9 14 83 40 6 0 9 1 49
2024/2025323 28 154 116 23 2 0 0 0 0 0 0 0
Totale 2.758