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1 . Academic Journal
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
저자
by
Rodolfo Tonin
;
Federica Feo
;
Silvia Falliano
;
Laura Giunti
;
Martino Calamai
, et al.
소스
Stem Cell Research, Vol 77, Iss , Pp 103431- (2024)
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7 . Academic Journal
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
저자
by
Rodolfo Tonin
;
Federica Feo
;
Silvia Falliano
;
Lorenzo Ferri
;
Laura Giunti
, et al.
소스
Stem Cell Research, Vol 73, Iss , Pp 103235- (2023)
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7 . Academic Journal
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
저자
by
Edoardo Fino
;
Alessandro Barbato
;
Giusi M. Scaturro
;
Elena Procopio
;
Simona Balestrini
.
소스
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101008- (2023)
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7 . Academic Journal
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
저자
by
Vicente A. Yépez
;
Mirjana Gusic
;
Robert Kopajtich
;
Christian Mertes
;
Nicholas H. Smith
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
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7 . Academic Journal
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
저자
by
Flavia Tubili
;
Francesca Pochiero
;
Maria Rosaria Curcio
;
Elena Procopio
.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
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6 . Academic Journal
Communicating a Positive Result at Newborn Screening and Parental Distress
저자
by
Elisa Lastrucci
;
Marta Daniotti
;
Elena Procopio
;
Giusi Scaturro
;
Flavia Tubili
, et al.
소스
International Journal of Neonatal Screening, Vol 9, Iss 3, p 38 (2023)
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7 . Academic Journal
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
저자
by
Anna Ardissone
;
Claudio Bruno
;
Daria Diodato
;
Alice Donati
;
Daniele Ghezzi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
저자
by
Francesca Peluso
;
Viviana Palazzo
;
Giuseppe Indolfi
;
Francesco Mari
;
Roberta Pasqualetti
, et al.
소스
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
SARS-CoV-2 infection in a patient with propionic acidemia
저자
by
Anna Caciotti
;
Elena Procopio
;
Francesca Pochiero
;
Silvia Falliano
;
Giuseppe Indolfi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
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7 . Academic Journal
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
저자
by
Alice Brambilla
;
Iacopo Olivotto
;
Silvia Favilli
;
Gaia Spaziani
;
Silvia Passantino
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
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