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1 . Academic Journal
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
저자
by
Irene Motta
;
Dario Consonni
;
Marina Stroppiano
;
Christian Benedetto
;
Elena Cassinerio
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
저자
by
Francesca Furlan
;
Attilio Rovelli
;
Miriam Rigoldi
;
Mirella Filocamo
;
Barbara Tappino
, et al.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 155-161 (2018)
Open Access (BioMed Central)
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7 . Academic Journal
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
저자
by
Mirella Filocamo
;
Rosella Tomanin
;
Francesca Bertola
;
Amelia Morrone
.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 35-45 (2018)
Open Access (BioMed Central)
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6 . Academic Journal
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
저자
by
Chiara Baldo
;
Lorena Casareto
;
Alessandra Renieri
;
Giuseppe Merla
;
Barbara Garavaglia
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
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7 . Academic Journal
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases
저자
by
Mirella Filocamo
;
Raffaella Mazzotti
;
Fabio Corsolini
;
Marina Stroppiano
;
Giorgia Stroppiana
, et al.
소스
Open Journal of Bioresources, Vol 1, p e2 (2014)
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Find it @ DONGA
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7 . Academic Journal
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
저자
by
Stefano Regis
;
Fabio Corsolini
;
Serena Grossi
;
Barbara Tappino
;
David N Cooper
, et al.
소스
PLoS ONE, Vol 8, Iss 9, p e73633 (2013)
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7 . Academic Journal
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
저자
by
Stefania Zampieri
;
Silvia Cattarossi
;
Ana Maria Oller Ramirez
;
Camillo Rosano
;
Charles Marques Lourenco
, et al.
소스
PLoS ONE, Vol 7, Iss 7, p e41516 (2012)
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7 .
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models
저자
by
Valeria Pistorio
;
Stefania Bellesso
;
Susanna Lualdi
;
Mirella Filocamo
;
Enrico Moro
, et al.
소스
Human Molecular Genetics
. 29:274-285
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7 .
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
저자
by
Barbara Tappino
;
Renata Voltolini Velho
;
Nicole Muschol
;
Karen Tylee
;
Mirella Filocamo
, et al.
소스
Human Mutation, 40(7), 842-864. Wiley-Liss Inc.
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7 .
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
저자
by
Andrea Superti-Furga
;
Carlo Rivolta
;
Francesco Testa
;
Nicola Bedoni
;
Marta Corton
, et al.
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