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Jedrzejowska, Maria
47  results:
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1

Whole-Exome Analysis for Polish Caucasian Patients with Ret..:

Matczyńska, Ewa ; Szymańczak, Robert ; Stradomska, Katarzyna...
Genes.  15 (2024)  8 - p. 1011 , 2024
Link: https://doi.org/10.3390/..
 
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2

Optimised, Broad NGS Panel for Inherited Eye Diseases to Di..:

Matczyńska, Ewa ; Beć-Gajowniczek, Marta ; Sivitskaya, Larysa...
Biomedicines.  12 (2024)  6 - p. 1355 , 2024
Link: https://doi.org/10.3390/..
 
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3

Cervical dystonia and no oculomotor apraxia as new manifest..:

Bajek, Agnieszka ; Przewodowska, Dominika ; Koziorowski, Dariusz..
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

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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5

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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6

Observation of the natural course of type 3 spinal muscular..:

Lusakowska, Anna ; Jedrzejowska, Maria ; Kaminska, Anna...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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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

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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9

Clinical and molecular characterization of craniofrontonasa..:

Bukowska-Olech, Ewelina ; Gawliński, Paweł ; Jakubiuk-Tomaszuk, Anna...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Cervical rotation, chest deformity and pelvic obliquity in ..:

Stępień, Agnieszka ; Mazurkiewicz, Łucja ; Maślanko, Katarzyna..
BMC Musculoskeletal Disorders.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

Advances in Newborn Screening and Presymptomatic Diagnosis ..:

Jędrzejowska, Maria
Degenerative Neurological and Neuromuscular Disease.  10 (2020)  - p. 39-47 , 2020
Link: https://doi.org/10.2147/..
 
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12

The phenotype‐driven computational analysis yields clinical..:

Jezela‐Stanek, Aleksandra ; Ciara, Elżbieta ; Jurkiewicz, Dorota...
Molecular Genetics & Genomic Medicine.  8 (2020)  9 - p. , 2020
Link: https://doi.org/10.1002/..
 
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13

Reliability of four tests to assess body posture and the ra..:

Stępień, Agnieszka ; Jędrzejowska, Maria ; Guzek, Katarzyna..
BMC Musculoskeletal Disorders.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

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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15

Life-threatening cardiac episode in a Polish patient carryi..:

Iwanicka-Pronicka, Katarzyna ; Socha, Magdalena ; Jędrzejowska, Maria..
SpringerPlus.  5 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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