E-LIB Suche - Ergebnisse für: Jędrzejowska, Maria

1

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/..

2

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/..

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

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/..

12

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/..

13

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/..

14

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/..

15

Novel Col12A1 variant expands the clinical picture of conge..:

Punetha, Jaya ; Kesari, Akanchha ; Hoffman, Eric P....
Muscle & Nerve. 55 (2016) 2 - p. 277-281 , 2016

Link: https://doi.org/10.1002/..