IRIS
ZUFFARDI, ORSETTA
 Distribuzione geografica
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Continente #
EU - Europa 24
Totale 24
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Nazione #
IT - Italia 24
Totale 24
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Città #
Pognana Lario 7
Pavia 6
Turin 6
Cremona 1
Verrua Po 1
Totale 21
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Nome #
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies, file 4a8fdcde-58af-471c-9eda-f6ec7d756826 2
SCN2A and arrhythmia: A potential correlation? A case report and literature review, file b60595e1-eb36-4f41-8931-7c4b515b06a8 2
PRKACB and Carney complex, file e1f104fa-9cd1-8c6e-e053-1005fe0aa0dd 2
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare, file e1f104fc-20a1-8c6e-e053-1005fe0aa0dd 2
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome, file 2e029ae0-f93a-4c3b-9717-4c79ef2a5998 1
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant, file 40d7343b-f4b7-48a5-80d4-6203c647df95 1
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients, file 43d8aba9-2b93-4776-b9b4-62c46972da7b 1
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate, file 540498f5-e701-4ebd-9cdb-754a582bc655 1
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study, file 58e3d53d-bf6f-4fa4-accc-6e8559b1fc2d 1
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type, file 62d601b7-3154-4407-8903-43248a4e5057 1
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism, file 9648ded0-988f-4356-98be-37987caaa1b0 1
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding, file 9db876aa-40fa-4f23-868c-856a9d94ab27 1
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations, file a3aa24e2-b454-4eb2-b946-64404fdd3c0b 1
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature, file ce5cb718-2de4-4980-8c55-d55293a98177 1
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke, file e1f104fa-7ad1-8c6e-e053-1005fe0aa0dd 1
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome., file e1f104fa-9798-8c6e-e053-1005fe0aa0dd 1
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype, file e1f104fc-4e72-8c6e-e053-1005fe0aa0dd 1
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH, file e1f104fc-4fdb-8c6e-e053-1005fe0aa0dd 1
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes, file e1f104fc-5659-8c6e-e053-1005fe0aa0dd 1
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis, file e1f104fc-70b5-8c6e-e053-1005fe0aa0dd 1
Totale 24
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Categoria #
all - tutte 98
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 98
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202 0 0 2 0 0 0 0 0 0 0 0 0
2020/20215 0 0 0 0 0 1 3 0 1 0 0 0
2022/202316 1 0 0 0 0 0 13 1 0 1 0 0
Totale 24