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1 . Academic Journal
The role of genetic testing in suspected fulminant myocarditis: A case report
저자
by
Raffaella Mistrulli
;
Caterina Micolonghi
;
Federico Follesa
;
Marco Fabiani
;
Erika Pagannone
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101000- (2023)
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7 . Academic Journal
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
저자
by
Caterina Micolonghi
;
Marco Fabiani
;
Erika Pagannone
;
Camilla Savio
;
Marta Ricci
, et al.
소스
Current Issues in Molecular Biology, Vol 45, Iss 3, Pp 2422-2430 (2023)
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7 . Academic Journal
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
저자
by
Francesco Cava
;
Caterina Micolonghi
;
Maria Beatrice Musumeci
;
Simona Petrucci
;
Camilla Savio
, et al.
소스
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
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7 . Academic Journal
'Neurodevelopmental outcome of a child with UPD(16)mat: A case report'
저자
by
Maria Novelli
;
Valeria Mammarella
;
Francesca Calandriello
;
Sara Temofonte
;
Marina Goldoni
, et al.
소스
Global Pediatrics, Vol 9, Iss , Pp 100179- (2024)
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7 . Academic Journal
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
저자
by
Daniele Guadagnolo
;
Gioia Mastromoro
;
Enrica Marchionni
;
Aldo Germani
;
Fabio Libi
, et al.
소스
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
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7 . Academic Journal
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series
저자
by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Nader Khaleghi Hashemian
;
Laura Bernardini
;
Antonella Giancotti
, et al.
소스
Diagnostics, Vol 13, Iss 1, p 48 (2022)
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7 . Academic Journal
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis
저자
by
Marcella Nebbioso
;
Federica Franzone
;
Alessandro Lambiase
;
Maurizio La Cava
;
Fabiana Mallone
, et al.
소스
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome
저자
by
Paola Pontecorvi
;
Laura Bernardini
;
Anna Capalbo
;
Simona Ceccarelli
;
Francesca Megiorni
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
저자
by
Omid Daneshjoo
;
Pirooz Ebrahimi
;
Leila B. Salehi
;
Antonio Pizzuti
;
Masoud Garshasbi
.
소스
Clinical Case Reports, Vol 8, Iss 12, Pp 2333-2340 (2020)
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7 . Academic Journal
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants
저자
by
Lorenzo Perilli
;
Gioia Mastromoro
;
Manuel Murciano
;
Ilaria Amedeo
;
Federica Avenoso
, et al.
소스
Frontiers in Neurology, Vol 12 (2022)
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