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Gos, Monika
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1

Research on the Pathogenesis of Cognitive and Neurofunction..:

Braun-Walicka, Natalia ; Pluta, Agnieszka ; Wolak, Tomasz...
Genes.  14 (2023)  12 - p. 2173 , 2023
Link: https://doi.org/10.3390/..
 
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2

Expanding the genetics and phenotypic spectrum of Lysine-sp..:

Leonardi, Emanuela ; Aspromonte, Maria Cristina ; Drongitis, Denise...
European Journal of Human Genetics.  31 (2022)  2 - p. 202-215 , 2022
Link: https://doi.org/10.1038/..
 
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3

Newborn screening and gene therapy in SMA: Challenges relat..:

Kotulska, Katarzyna ; Jozwiak, Sergiusz ; Jedrzejowska, Maria...
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

Destabilization of mutated human PUS3 protein causes intell..:

Lin, Ting‐Yu ; Smigiel, Robert ; Kuzniewska, Bozena...
Human Mutation.  43 (2022)  12 - p. 2063-2078 , 2022
Link: https://doi.org/10.1002/..
 
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5

Case Report: Further Delineation of Neurological Symptoms i..:

Klaniewska, Magdalena ; Jedrzejowska, Maria ; Rydzanicz, Malgorzata...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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6

Wide Fontanels, Delayed Speech Development and Hoarse Voice..:

Kutkowska-Kaźmierczak, Anna ; Boczar, Maria ; Kalka, Ewa...
Genes.  12 (2021)  8 - p. 1257 , 2021
Link: https://doi.org/10.3390/..
 
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7

Floppy infant syndrome as a first manifestation of LMNA-rel..:

Jędrzejowska, Maria ; Potulska-Chromik, Anna ; Gos, Monika...
European Journal of Paediatric Neurology.  32 (2021)  - p. 115-121 , 2021
Link: https://doi.org/10.1016/..
 
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8

Bullous diseases caused by KRT1 gene mutations:from epiderm..:

Osipowicz, Katarzyna ; Wertheim-Tysarowska, Katarzyna ; Kwiek, Bartłomiej...
Advances in Dermatology and Allergology.  38 (2021)  6 - p. 1032-1038 , 2021
Link: https://doi.org/10.5114/..
 
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9

Pathogenic Mutations and Putative Phenotype-Affecting Varia..:

Potulska-Chromik, Anna ; Jędrzejowska, Maria ; Gos, Monika...
Journal of Clinical Medicine.  10 (2021)  5 - p. 914 , 2021
Link: https://doi.org/10.3390/..
 
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10

Successful Salvage Treosulfan-Based Megachemotherapy With A..:

Janeczko-Czarnecka, Małgorzata ; Raciborska, Anna ; Gos, Monika...
Transplantation Proceedings.  52 (2020)  9 - p. 2844-2848 , 2020
Link: https://doi.org/10.1016/..
 
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11

Mutation in the KRT1 gene causing epidermolysis bullosa sim..:

Osipowicz, Katarzyna ; Wertheim-Tysarowska, Katarzyna ; Jankowska, Ewa...
Advances in Dermatology and Allergology.  , 2020
Link: https://doi.org/10.5114/..
 
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12

Correction to: Splicing mutations in human genetic disorder..:

Abramowicz, Anna ; Gos, Monika
Journal of Applied Genetics.  60 (2019)  2 - p. 231-231 , 2019
Link: https://doi.org/10.1007/..
 
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13

Correction to: Craniosynostosis as a clinical and diagnosti..:

Kutkowska-Kaźmierczak, Anna ; Gos, Monika ; Obersztyn, Ewa
Journal of Applied Genetics.  59 (2018)  2 - p. 149-150 , 2018
Link: https://doi.org/10.1007/..
 
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14

Craniosynostosis as a clinical and diagnostic problem: mole..:

Kutkowska-Kaźmierczak, Anna ; Gos, Monika ; Obersztyn, Ewa
Journal of Applied Genetics.  59 (2018)  2 - p. 133-147 , 2018
Link: https://doi.org/10.1007/..
 
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15

The remarkable phenotypic variability of the p.Arg269HiS va..:

Jędrzejowska, Maria ; Dębek, Emilia ; Kowalczyk, Bartłomiej...
Muscle & Nerve.  59 (2018)  1 - p. 129-133 , 2018
Link: https://doi.org/10.1002/..
 
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