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1 . Academic Journal
P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition
저자
by
Amelie Pinard
;
Anthony Chua
;
Ugur Hodoglugil
;
Pierre-Marie Martin
;
Julie Mak
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100582- (2023)
Full Text (Clinical Key)
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7 .
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
저자
by
Marta Sabbadini
;
Jude M. Abadie
;
Anne Slavotinek
;
Jessica Van Ziffle
;
Mark N. Kvale
, et al.
소스
European Journal of Medical Genetics
. 60:504-508
Full Text (Clinical Key)
Web of Science
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7 .
Corneal clouding, cataract, and colobomas with a novel missense mutation inB4GALT7-a review of eye anomalies in the linkeropathy syndromes
저자
by
Mahim Jain
;
Marta Sabbadini
;
Teda Arunrut
;
Keren Machol
;
Fernando Scaglia
, et al.
소스
American Journal of Medical Genetics Part A
. 170:2711-2718
Open Access (OpenAIRE)
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7 .
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease
저자
by
R. Bradley Troxler
;
Marta Sabbadini
;
Neerja Gupta
;
David Kronn
;
Ankit K. Desai
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
Response to Biesecker
저자
by
Bryce A. Mendelsohn
;
Marta Sabbadini
.
소스
Genetics in Medicine
. 21:762
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4 .
An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease
저자
by
Sherry Langston
;
Neerja Gupta
;
James Weisfield-Adams
;
Marta Sabbadini
;
Zoheb B. Kazi
, et al.
소스
Molecular Genetics and Metabolism
. 123:S38
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7 .
Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy
저자
by
Marta Sabbadini
;
Diana Ballhausen
;
Priya S. Kishnani
;
David Kronn
;
Seymour Packman
, et al.
소스
Molecular Genetics and Metabolism
. 117:S65-S66
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7 .
Gene expression analysis in interstitial lung edema induced by saline infusion
저자
by
Donatella Barisani
;
Marta Sabbadini
;
Giuseppe Miserocchi
;
Raffaella Meneveri
;
Anna Marozzi
, et al.
소스
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
. 1638(2):149-156
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7 .
Differential regulation of Notch signal transduction in leukaemia and lymphoma cells in culture
저자
by
Anna Serra
;
Daniela Capello
;
Raffaella Chiaramonte
;
Gianluca Gaidano
;
Marta Sabbadini
, et al.
소스
Università degli Studi del Piemonte Orientale-IRIS
Full Text (Wiley)
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7 .
International genetic counseling students' perspective on their training experience in the United States
저자
by
Jon Weil
;
Marta Sabbadini
;
Wendy Packman
;
Mariana Naldi
;
Janey Youngblom
.
소스
Journal of genetic counseling
. 22(6)
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