IRIS
ORRICO, ALFREDO
 Distribuzione geografica
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Continente #
NA - Nord America 2.080
EU - Europa 1.115
AS - Asia 171
SA - Sud America 3
AF - Africa 1
Totale 3.370
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Nazione #
US - Stati Uniti d'America 2.073
GB - Regno Unito 305
IE - Irlanda 269
CN - Cina 151
SE - Svezia 140
UA - Ucraina 114
IT - Italia 85
DE - Germania 59
FR - Francia 59
FI - Finlandia 33
ES - Italia 20
BE - Belgio 10
NL - Olanda 9
CA - Canada 7
TR - Turchia 6
IR - Iran 4
IN - India 3
PL - Polonia 3
RO - Romania 3
AR - Argentina 2
JP - Giappone 2
RU - Federazione Russa 2
AM - Armenia 1
BG - Bulgaria 1
CL - Cile 1
CZ - Repubblica Ceca 1
HK - Hong Kong 1
HR - Croazia 1
IL - Israele 1
LV - Lettonia 1
MA - Marocco 1
PK - Pakistan 1
SG - Singapore 1
Totale 3.370
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Città #
Fairfield 382
Southend 276
Dublin 266
Ashburn 213
Chandler 174
Woodbridge 174
Seattle 142
Cambridge 139
Wilmington 133
Houston 121
Ann Arbor 97
Jacksonville 95
Menlo Park 54
New York 45
Princeton 39
Siena 37
Nanjing 36
Beijing 32
Málaga 20
San Diego 18
Boardman 15
Lancaster 15
Helsinki 14
Shanghai 12
Nanchang 11
Tianjin 10
Washington 10
Shenyang 9
San Mateo 7
Dearborn 6
Florence 6
Hebei 6
Jiaxing 6
Düsseldorf 5
London 5
Los Angeles 5
Redwood City 5
Toronto 5
Brussels 4
Hangzhou 4
Ningbo 4
Sinalunga 4
Waanrode 4
Zhengzhou 4
Bonndorf 3
Changsha 3
Izmir 3
Kunming 3
Lanzhou 3
Lentate sul Seveso 3
Norwalk 3
San Francisco 3
Venezia 3
Zanjan 3
Buenos Aires 2
Cagnes-sur-mer 2
Chandigarh 2
Kilburn 2
Leuven 2
Saint Petersburg 2
Wroclaw 2
Acton 1
Amsterdam 1
Ardabil 1
Bengaluru 1
Berlin 1
Bologna 1
Castiglione D'orcia 1
Central 1
Chicago 1
Clearwater 1
Costa Mesa 1
Denver 1
Falkenstein 1
Fremont 1
Fuzhou 1
Haikou 1
Hefei 1
Henderson 1
Islamabad 1
Jinan 1
Leawood 1
Miami 1
Milan 1
Mlini 1
Padova 1
Philadelphia 1
Pontassieve 1
Prague 1
Riga 1
Rome 1
Sacramento 1
Sesto 1
Sofia 1
Southwark 1
Surrey 1
Taizhou 1
Tappahannock 1
Tokyo 1
Waco 1
Totale 2.752
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Nome #
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b 275
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 204
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 200
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly 195
SCN1A mutation associated with atypical Panayiotopoulos syndrome 187
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 184
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy 177
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 167
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication 165
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 163
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies 148
MECP2 mutation in male patients with non-specific X-linked mental retardation 142
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 142
Allopurinol prevents ischaemia-dependent haemorheological changes 140
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients 138
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene 130
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region 127
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia 120
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene 105
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes 75
null 67
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia 47
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 35
Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation:A case report and rewiew of the literature 30
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. 28
Totale 3.391
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Categoria #
all - tutte 9.627
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 9.627
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019271 0 0 0 0 0 0 0 0 0 0 138 133
2019/2020801 92 32 75 129 61 68 77 95 74 42 19 37
2020/2021519 24 110 40 34 43 45 18 61 43 34 42 25
2021/2022317 20 47 8 20 11 6 22 38 15 20 26 84
2022/2023528 29 58 85 60 48 80 16 46 46 31 16 13
2023/2024450 14 9 39 27 14 168 160 9 4 6 0 0
Totale 3.391