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1 . Academic Journal
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
저자
by
Wood, Katherine A.
;
Tong, R Spencer
;
Motta, Marialetizia
;
Cordeddu, Viviana
;
Scimone, Eleanor R.
, et al.
소스
In
The American Journal of Human Genetics
5 September 2024 111(9):1953-1969
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7 . Academic Journal
Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study
저자
by
Tani, Chiara
;
Cardelli, Chiara
;
Depascale, Roberto
;
Gamba, Anna
;
Iaccarino, Luca
, et al.
소스
In
Journal of Translational Autoimmunity
December 2023 7
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7 . Academic Journal
Longitudinal dynamics of SARS-CoV-2 anti–receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination
저자
by
Bordi, Licia
;
Sberna, Giuseppe
;
Piscioneri, Cesira Natalina
;
Cocchiara, Rosario Andrea
;
Miani, Anna
, et al.
소스
In
International Journal of Infectious Diseases
September 2022 122:174-177
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7 . Academic Journal
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
저자
by
Micale, Lucia
;
Morlino, Silvia
;
Biagini, Tommaso
;
Carbone, Annalucia
;
Fusco, Carmela
, et al.
소스
In
BBA - Molecular Basis of Disease
1 June 2020 1866(6)
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7 . Academic Journal
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
저자
by
Pascolini, Giulia
;
Valiante, Michele
;
Bottillo, Irene
;
Laino, Luigi
;
Fleischer, Nicole
, et al.
소스
In
European Journal of Medical Genetics
March 2020 63(3)
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7 . Academic Journal
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes
저자
by
Radio, Francesca Clementina
;
Majore, Silvia
;
Aurizi, Caterina
;
Sorge, Fiammetta
;
Biolcati, Gianfranco
, et al.
소스
In
Blood Cells, Molecules and Diseases
June 2015 55(1):71-75
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7 . Academic Journal
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia
저자
by
Mauri, Lucia
;
Franzoni, Alessandra
;
Scarcello, Manuela
;
Sala, Stefano
;
Garavelli, Livia
, et al.
소스
In
European Journal of Medical Genetics
February 2015 58(2):66-70
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7 . Academic Journal
Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients
저자
by
Marrocco, Giacinto
;
Grammatico, Paola
;
Vallasciani, Santiago
;
Gulia, Caterina
;
Zangari, Andrea
, et al.
소스
In
Journal of Pediatric Urology
February 2015 11(1):12-19
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7 . Academic Journal
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
저자
by
Bottillo, Irene
;
Laino, Luigi
;
Azzarà, Alessia
;
Lintas, Carla
;
Cassano, Ilaria
, et al.
소스
Frontiers in Neuroscience; 2024, p1-7, 7p
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7 . Academic Journal
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
저자
by
Radio, Francesca Clementina
;
Majore, Silvia
;
Binni, Francesco
;
Valiante, Michele
;
Ricerca, Bianca Maria
, et al.
소스
In
Blood Cells, Molecules and Diseases
February-March 2014 52(2-3):83-87
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