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1 . Academic Journal
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.
저자
by
Zanchetta, Melania Eva
;
Barozzi, Serena
;
Isidori, Federica
;
Marconi, Caterina
;
Farinasso, Loredana
, et al.
소스
British Journal of Haematology
. Apr2024, p1. 5p. 1 Illustration, 1 Chart.
Full Text (Wiley)
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7 . Academic Journal
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma.
저자
by
Bozzarelli, Isotta
;
Orsini, Arianna
;
Isidori, Federica
;
Mastracci, Luca
;
Malvi, Deborah
, et al.
소스
Cancers
. Feb2024, Vol. 16 Issue 3, p591. 16p.
Web of Science
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7 . Periodical
COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction
저자
by
Pettenuzzo, Ilaria
;
Carli, Sara
;
Sánchez-Cuesta, Ana
;
Isidori, Federica
;
Montanari, Francesca
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p
Web of Science
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7 . Academic Journal
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma.
저자
by
Orsini, Arianna
;
Mastracci, Luca
;
Bozzarelli, Isotta
;
Ferrari, Anna
;
Isidori, Federica
, et al.
소스
Cancers
. Mar2023, Vol. 15 Issue 5, p1408. 15p.
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7 . Academic Journal
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.
저자
by
Graziano, Claudio
;
Despang, Patrick
;
Palombo, Flavia
;
Severi, Giulia
;
Posar, Annio
, et al.
소스
Journal of Autism & Developmental Disorders
; 2021, Vol. 51 Issue 1, p377-381, 5p, 1 Graph
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7 . Academic Journal
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
저자
by
Bonora, Elena
;
Chakrabarty, Sanjiban
;
Kellaris, Georgios
;
Tsutsumi, Makiko
;
Bianco, Francesca
, et al.
소스
Brain: A Journal of Neurology
. May2021, Vol. 144 Issue 5, p1451-1466. 16p.
Full Text (OUP)
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7 . Academic Journal
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations
저자
by
Isidori, Federica
;
Bozzarelli, Isotta
;
Mastracci, Luca
;
Malvi, Deborah
;
Lugaresi, Marialuisa
, et al.
소스
Clinical and Translational Gastroenterology
. Sep 01, 2020 11(9):e00202-e00202
Full Text (LWW)
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7 . Academic Journal
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.
저자
by
Diquigiovanni, Chiara
;
Bergamini, Christian
;
Evangelisti, Cecilia
;
Isidori, Federica
;
Vettori, Andrea
, et al.
소스
International Journal of Cancer; Oct2018, Vol. 143 Issue 7, p1706-1719, 14p
Full Text (Wiley)
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7 . Academic Journal
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report.
저자
by
Isidori, Federica
;
Malvi, Deborah
;
Fittipaldi, Silvia
;
Forcato, Claudio
;
Bozzarelli, Isotta
, et al.
소스
BMC Cancer
. 9/12/2018, Vol. 18 Issue 1, p1-6. 6p. 2 Color Photographs.
Open Access (BioMed Central)
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7 . Academic Journal
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.
저자
by
Tortora, Giada
;
Wischmeijer, Anita
;
Berretta, Paolo
;
Alfonsi, Jacopo
;
Di Marco, Luca
, et al.
소스
Interactive Cardiovascular & Thoracic Surgery; Nov2017, Vol. 25 Issue 5, p813-817, 5p
Full Text (OUP Near Archive)
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