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1 . Academic Journal
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
저자
by
Marzollo, Antonio
;
Zampieri, Stefania
;
Barozzi, Serena
;
Yousaf, Muhammad Abrar
;
Quartararo, Jade
, et al.
소스
British Journal of Haematology
. Jul2024, Vol. 205 Issue 1, p306-315. 10p.
Full Text (Wiley)
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7 . 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
. Jun2024, Vol. 204 Issue 6, p2453-2457. 5p.
Full Text (Wiley)
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7 . Academic Journal
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
저자
by
Noris, Patrizia
;
Perrotta, Silverio
;
Seri, Marco
;
Pecci, Alessandro
;
Gnan, Chiara
, et al.
소스
In
Blood
16 June 2011 117(24):6673-6680
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7 . Academic Journal
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant
저자
by
Ricciardiello, Roberto
;
Forleo, Giulia
;
Cipolla, Lina
;
van Winckel, Geraldine
;
Marconi, Caterina
, et al.
소스
Scientific Reports
. 14(1)
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7 . Academic Journal
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
저자
by
Gozzelino, Luca
;
Kochlamazashvili, Gaga
;
Baldassari, Sara
;
Mackintosh, Albert Ian
;
Licchetta, Laura
, et al.
소스
Brain: A Journal of Neurology
. Jul2022, Vol. 145 Issue 7, p2313-2331. 19p.
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7 . Academic Journal
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization
저자
by
Bottega, Roberta
;
Marconi, Caterina
;
Faleschini, Michela
;
Baj, Gabriele
;
Cagioni, Claudia
, et al.
소스
In
Blood
29 January 2015 125(5):869-872
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7 . Academic Journal
Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis.
저자
by
Marconi, Caterina
;
Lemmens, Laure
;
Masclaux, Frédéric
;
Mattioli, Francesca
;
Fluss, Joël
, et al.
소스
Clinical Genetics
. Sep2021, Vol. 100 Issue 3, p329-333. 5p.
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7 . Academic Journal
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
저자
by
Palombo, Flavia
;
Graziano, Claudio
;
Al Wardy, Nadia
;
Nouri, Nayereh
;
Marconi, Caterina
, et al.
소스
Human Genetics
. Nov2020, Vol. 139 Issue 11, p1429-1441. 13p.
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7 . Academic Journal
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
저자
by
Dimartino, Paola
;
Mariani, Valeria
;
Marconi, Caterina
;
Minardi, Raffaella
;
Bramerio, Manuela
, et al.
소스
Molecular Diagnosis & Therapy
. Oct2020, Vol. 24 Issue 5, p571-577. 7p.
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7 . Periodical
ACE2gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
저자
by
Benetti, Elisa
;
Tita, Rossella
;
Spiga, Ottavia
;
Ciolfi, Andrea
;
Birolo, Giovanni
, et al.
소스
European Journal of Human Genetics: EJHG; November 2020, Vol. 28 Issue: 11 p1602-1614, 13p
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