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1 . Academic Journal
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study
저자
by
Rossella Mazzilli
;
Simona Petrucci
;
Virginia Zamponi
;
Bianca Golisano
;
Giulia Pecora
, et al.
소스
Journal of Clinical Medicine, Vol 13, Iss 15, p 4399 (2024)
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7 . Academic Journal
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
저자
by
Carmela Romano
;
Emanuele Morena
;
Simona Petrucci
;
Selene Diamant
;
Martina Marconi
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . 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
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
저자
by
Maddalena Petraroli
;
Antonio Percesepe
;
Maria Piane
;
Francesca Ormitti
;
Eleonora Castellone
, et al.
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Frontiers in Endocrinology, Vol 14 (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
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
저자
by
Antongiulio Faggiano
;
Beatrice Fazzalari
;
Nevena Mikovic
;
Flaminia Russo
;
Virginia Zamponi
, et al.
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Genes, Vol 14, Iss 9, p 1782 (2023)
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7 . Academic Journal
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
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by
Flaviana Marzano
;
Matteo Chiara
;
Arianna Consiglio
;
Gabriele D’Amato
;
Mattia Gentile
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 15, p 12291 (2023)
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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
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy
저자
by
Andrea Montori
;
Aldo Germani
;
Mario Ferri
;
Annalisa Milano
;
Teresa Valentina Ranalli
, et al.
소스
Biomedicines, Vol 10, Iss 12, p 3247 (2022)
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