IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
EU - Europa 81
NA - Nord America 36
AS - Asia 12
OC - Oceania 1
Totale 130
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Nazione #
IE - Irlanda 46
US - Stati Uniti d'America 36
FR - Francia 24
VN - Vietnam 11
IT - Italia 10
AU - Australia 1
CZ - Repubblica Ceca 1
JP - Giappone 1
Totale 130
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Città #
Dublin 46
Ashburn 17
Dong Ket 11
Boardman 10
Rome 5
Springfield 3
Lubbock 2
Columbus 1
Isola del Gran Sasso 1
Melbourne 1
Milan 1
Paris 1
San Giovanni in Persiceto 1
Seattle 1
Shizuoka 1
Totale 102
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Nome #
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice, file e2188bfa-c17b-f28d-e053-d805fe0ac2bb 16
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3, file e2188bfa-c17f-f28d-e053-d805fe0ac2bb 16
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients, file e2188bfb-cce8-f28d-e053-d805fe0ac2bb 16
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry, file e2188bf9-fd11-f28d-e053-d805fe0ac2bb 15
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network, file e2188bfb-0ab0-f28d-e053-d805fe0ac2bb 14
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants, file e2188bfb-069e-f28d-e053-d805fe0ac2bb 11
Tremor is a major feature of 9p13 deletion syndrome, file e2188bfb-0399-f28d-e053-d805fe0ac2bb 9
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies, file e2188bfb-6eb0-f28d-e053-d805fe0ac2bb 9
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy, file e2188bfb-b58b-f28d-e053-d805fe0ac2bb 9
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes, file e2188bfa-9995-f28d-e053-d805fe0ac2bb 8
Corrigendum to "Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology" [International Journal of Cardiology Volume 364, 1 October 2022, Pages 169-177], file 62aae7b4-da93-4a96-9895-95129f231e47 3
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation, file 41706762-3377-49a6-b72e-048de11c44c5 2
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI, file e2188bfa-8b14-f28d-e053-d805fe0ac2bb 2
Totale 130
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Categoria #
all - tutte 262
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 262
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202113 0 0 0 0 0 0 0 1 1 0 0 11
2021/20221 0 0 0 0 0 0 0 0 1 0 0 0
2022/202385 0 0 0 1 3 0 4 0 46 0 31 0
2023/202431 0 0 3 1 0 1 15 10 0 0 1 0
Totale 130