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1 . Academic Journal
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy
저자
by
Ylenia D’Agostino
;
Domenico Palumbo
;
Maria Rosaria Rusciano
;
Oriana Strianese
;
Sonia Amabile
, et al.
소스
Diagnostics, Vol 12, Iss 10, p 2411 (2022)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
저자
by
Luigia De Falco
;
Giovanni Savarese
;
Teresa Suero
;
Sonia Amabile
;
Raffaella Ruggiero
, et al.
소스
Clinical Case Reports, Vol 7, Iss 10, Pp 1977-1981 (2019)
Open Access (Wiley)
Open Access (DOAJ)
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7 .
Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel
저자
by
Annamaria Salvati
;
Ileana Carnevali
;
Elena Alexandrova
;
Sofia Facchi
;
Susanna Ronchi
, et al.
소스
Experimental and molecular pathology
. 128
Scopus
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7 .
Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
저자
by
Raffaella Ruggiero
;
Sonia Amabile
;
Luigia De Falco
;
Teresa Suero
;
Antonio Fico
, et al.
소스
Clinical Case Reports
Clinical Case Reports, Vol 7, Iss 10, Pp 1977-1981 (2019)
Open Access (Wiley)
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Scopus
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7 .
Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions
저자
by
Sonia Amabile
;
Francesco Maria Rosanio
;
Ida D'Acunzo
;
Alessandro Piccirillo
;
Chiara Tornincasa
, et al.
소스
Pediatric dermatologyREFERENCES
. 38(5)
Scopus
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7 .
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
저자
by
Lauren Jeffries
;
James L. McGrath
;
Weizhen Ji
;
Michele Spencer-Manzon
;
Sonia Amabile
, et al.
소스
American journal of medical genetics. Part AREFERENCES
. 182(9)
Scopus
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7 .
RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome
저자
by
Mariateresa Falco
;
Fabio Acquaviva
;
Sonia Amabile
.
소스
The Application of Clinical Genetics
. 10:85-94
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5 .
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome
저자
by
Stefania Butini
;
Chiara Fallerini
;
Angelo Molinaro
;
Jessica Mariani
;
Elisa Frullanti
, et al.
소스
Exp Cell Res
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7 .
A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families
저자
by
Caterina Lo Rizzo
;
Elisa Frullanti
;
Margherita Baldassarri
;
Lucia Radice
;
Roberto Canitano
, et al.
소스
Journal of Genetic Syndromes & Gene Therapy
. 7
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7 .
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice
저자
by
Tommaso Patriarchi
;
Mario Costa
;
Elisa Landucci
;
Johannes W. Hell
;
Alessandra Renieri
, et al.
소스
European journal of human genetics : EJHG, vol 24, iss 6
Open Access (OpenAIRE)
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