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1 . Academic Journal
The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
저자
by
Dagmara Kabzińska
;
Katarzyna Chabros
;
Joanna Kamińska
;
Andrzej Kochański
.
소스
Genes, Vol 13, Iss 9, p 1546 (2022)
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6 . Academic Journal
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model
저자
by
Weronika Rzepnikowska
;
Joanna Kaminska
;
Andrzej Kochański
.
소스
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9913 (2022)
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5 . Academic Journal
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
저자
by
Danique Beijer
;
Hong Joo Kim
;
Lin Guo
;
Kevin O’Donovan
;
Inès Mademan
, et al.
소스
JCI Insight, Vol 6, Iss 14 (2021)
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7 . Academic Journal
Analysis of the Innovative Channel Strut Concept Manufactured by Roll-Forming
저자
by
Andrzej Kochański
;
Piotr Czyżewski
;
Robert Cacko
;
Mariusz Roznowski
.
소스
Materials, Vol 15, Iss 3, p 1107 (2022)
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6 . Academic Journal
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy
저자
by
Dagmara Kabzińska
;
Hanna Mierzewska
;
Jan Senderek
;
Andrzej Kochański
.
소스
Folia Neuropathologica, Vol 54, Iss 3, Pp 273-281 (2016)
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6 . Academic Journal
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
저자
by
Katarzyna Binięda
;
Weronika Rzepnikowska
;
Damian Kolakowski
;
Joanna Kaminska
;
Andrzej Antoni Szczepankiewicz
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 2, p 914 (2021)
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7 . Academic Journal
Application of the Numerical Model to Design the Geometry of a Unit Tool in the Innovative RTH Hydroforming Technology
저자
by
Hanna Sadłowska
;
Andrzej Kochański
;
Magdalena Czapla
.
소스
Materials, Vol 13, Iss 23, p 5427 (2020)
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5 . Academic Journal
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy
저자
by
Agnieszka Madej-Pilarczyk
;
Andrzej Kochański
.
소스
Folia Neuropathologica, Vol 54, Iss 1, Pp 1-8 (2016)
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4 . Academic Journal
The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders
저자
by
Andrzej Kochański
.
소스
Family Medicine & Primary Care Review, Vol 17, Iss 4, Pp 319-322 (2015)
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3 . Academic Journal
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
저자
by
Weronika Rzepnikowska
;
Joanna Kaminska
;
Dagmara Kabzińska
;
Katarzyna Binięda
;
Andrzej Kochański
.
소스
International Journal of Molecular Sciences, Vol 21, Iss 12, p 4277 (2020)
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