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1 . Academic Journal
SCN2A and arrhythmia: A potential correlation? A case report and literature review
저자
by
Tzialla, Chryssoula
;
Arossa, Alessia
;
Mannarino, Savina
;
Orcesi, Simona
;
Veggiotti, Pierangelo
, et al.
소스
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European Journal of Medical Genetics
December 2022 65(12)
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7 . Academic Journal
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
저자
by
Bonaglia, Maria Clara
;
Fichera, Marco
;
Marelli, Susan
;
Romaniello, Romina
;
Zuffardi, Orsetta
.
소스
In
European Journal of Medical Genetics
November 2022 65(11)
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7 . Academic Journal
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
저자
by
Zuffardi, Orsetta
;
Fichera, Marco
;
Bonaglia, Maria Clara
.
소스
In
European Journal of Medical Genetics
August 2022 65(8)
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5 . Academic Journal
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
저자
by
Raviglione, Federico
;
Douzgou, Sofia
;
Scala, Marcello
;
Mingarelli, Alessia
;
D'Arrigo, Stefano
, et al.
소스
In
Seizure: European Journal of Epilepsy
May 2021 88:60-72
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7 . Academic Journal
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
저자
by
Errichiello, Edoardo
;
Malara, Alessandro
;
Grimod, Gianluca
;
Avolio, Luigi
;
Balduini, Alessandra
, et al.
소스
In
European Journal of Medical Genetics
January 2021 64(1)
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7 . Academic Journal
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
저자
by
Errichiello, Edoardo
;
Gorgone, Cristina
;
Giuliano, Loretta
;
Iadarola, Barbara
;
Cosentino, Emanuela
, et al.
소스
In
European Journal of Medical Genetics
June 2018 61(6):335-340
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7 . Academic Journal
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
저자
by
Errichiello, Edoardo
;
Vetro, Annalisa
;
Mina, Tommaso
;
Wischmeijer, Anita
;
Berrino, Enrico
, et al.
소스
In
Blood Cells, Molecules and Diseases
May 2017 64:38-44
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7 . Academic Journal
Next Generation Sequencing for Systematic Assessment of Genetics of Small-Vessel Disease and Lacunar Stroke
저자
by
Bersano, Anna
;
Zuffardi, Orsetta
;
Pantoni, Leonardo
;
Quaglini, Silvana
;
Ciccone, Roberto
, et al.
소스
In
Journal of Stroke and Cerebrovascular Diseases
April 2015 24(4):759-765
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7 . Academic Journal
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome
저자
by
Errichiello, Edoardo
;
Mina, Tommaso
;
Morbini, Patrizia
;
Zecca, Marco
;
Zuffardi, Orsetta
.
소스
In
Cancer Genetics
August 2021 256-257:179-183
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7 . Academic Journal
Genomic alterations in human umbilical cord–derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach
저자
by
Borghesi, Alessandro
;
Avanzini, Maria Antonietta
;
Novara, Francesca
;
Mantelli, Melissa
;
Lenta, Elisa
, et al.
소스
In
Cytotherapy
November 2013 15(11):1362-1373
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