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1 . Academic Journal
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome
저자
by
Fiorentini, Erika
;
Giunti, Laura
;
Di Rita, Andrea
;
Peraio, Simone
;
Fonte, Carla
, et al.
소스
In
European Journal of Medical Genetics
July 2023 66(7)
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7 . Academic Journal
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies
저자
by
Spinillo, Silvia L.
;
Farina, Antonio
;
Sotiriadis, Alexandros
;
Pozzoni, Mirko
;
Giglio, Sabrina
, et al.
소스
In
American Journal of Obstetrics and Gynecology
November 2022 227(5):714-727
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7 . Academic Journal
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
저자
by
Raviglione, Federico
;
Douzgou, Sofia
;
Scala, Marcello
;
Mingarelli, Alessia
;
D'Arrigo, Stefano
, et al.
소스
In
Seizure: European Journal of Epilepsy
May 2021 88:60-72
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7 . Academic Journal
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene
저자
by
Bargiacchi, Sara
;
Della Monica, Matteo
;
Biagiotti, Roberto
;
Andreucci, Elena
;
Ciabattoni, Serena
, et al.
소스
In
European Journal of Medical Genetics
July 2017 60(7):365-368
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7 . Academic Journal
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
저자
by
Saletti, Veronica
;
Esposito, Silvia
;
Maccaro, Angelo
;
Giglio, Sabrina
;
Valentini, Laura Grazia
, et al.
소스
In
European Journal of Medical Genetics
May 2017 60(5):261-264
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7 . Academic Journal
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype
저자
by
Piccini, Barbara
;
Artuso, Rosangela
;
Lenzi, Lorenzo
;
Guasti, Monica
;
Braccesi, Giulia
, et al.
소스
In
European Journal of Medical Genetics
November 2016 59(11):590-595
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7 . Academic Journal
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
저자
by
Formicola, Daniela
;
Podda, Irina
;
Pantaleo, Marilena
;
Andreucci, Elena
;
Lopergolo, Diego
, et al.
소스
Neuropediatrics
. Dec2023, Vol. 54 Issue 6, p407-411. 5p.
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7 . Academic Journal
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
저자
by
Saettini, Francesco
;
Guerra, Fabiola
;
Fazio, Grazia
;
Bugarin, Cristina
;
McMillan, Hugh J
, et al.
소스
Journal of Clinical Immunology
. Nov2023, Vol. 43 Issue 8, p2115-2125. 11p.
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7 . Academic Journal
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
저자
by
Saettini, Francesco
;
Guerra, Fabiola
;
Fazio, Grazia
;
Bugarin, Cristina
;
McMillan, Hugh J.
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 43(8):2126-2126
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7 . Academic Journal
Clinical and Genetic Profiles of Young Adult Patients with Myelodysplastic Syndromes
저자
by
Attardi, Enrico
;
Provenzano, Aldesia
;
Reho, Paolo
;
Raddi, Marco Gabriele
;
Fani, Arianna
, et al.
소스
In
Clinical Lymphoma, Myeloma and Leukemia
September 2019 19 Supplement 1:S347-S347
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