E-LIB Suche - Ergebnisse für: Śmigiel, Robert

1

From Genotype to Phenotype of Polish Patients with Pitt–Hop..:

Telenga, Marlena ; Rozensztrauch, Anna ; Giżewska-Kacprzak, Kaja.
Journal of Clinical Medicine. 13 (2024) 9 - p. 2605 , 2024

Link: https://doi.org/10.3390/..

2

Further Delineation of Clinical Phenotype of ZMYND11 Varian..:

Bodetko, Aleksandra ; Chrzanowska, Joanna ; Rydzanicz, Malgorzata...
Genes. 15 (2024) 2 - p. 256 , 2024

Link: https://doi.org/10.3390/..

3

SMC1A epilepsy syndrome: clinical data from a large interna..:

Gibellato, Elisabetta ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

4

Epigenetic Findings in Twins with Esophageal Atresia:

Błoch, Michal ; Gasperowicz, Piotr ; Gerus, Sylwester...
Genes. 14 (2023) 9 - p. 1822 , 2023

Link: https://doi.org/10.3390/..

5

Expression Quantitative Trait Methylation Analysis Identifi..:

Krzyzewska, Izabela M. ; Lauffer, Peter ; Mul, Adri N....
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6601 , 2023

Link: https://doi.org/10.3390/..

6

A novel non‐recurrent CNV deletion involving TBX4 and leavi..:

Bzdęga, Katarzyna ; Biela, Mateusz ; Deutsch, Gail H....
Clinical Genetics. 105 (2023) 2 - p. 190-195 , 2023

Link: https://doi.org/10.1111/..

7

Expanding the Knowledge of KIF1A-Dependent Disorders to a G..:

Paprocka, Justyna ; Jezela-Stanek, Aleksandra ; Śmigiel, Robert...
Genes. 14 (2023) 5 - p. 972 , 2023

Link: https://doi.org/10.3390/..

8

Health-Related Quality of Life and Family Functioning of Pr..:

Rozensztrauch, Anna ; Dzien, Izabela ; Śmigiel, Robert
Journal of Clinical Medicine. 12 (2023) 5 - p. 1769 , 2023

Link: https://doi.org/10.3390/..

9

Health-related quality of life and family functioning of pr..:

Rozensztrauch, Anna ; Wieczorek, Karolina ; Twardak, Iwona.
Frontiers in Psychiatry. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Het..:

Stembalska, Agnieszka ; Rydzanicz, Małgorzata ; Klaniewska, Magdalena...
Genes. 13 (2022) 8 - p. 1339 , 2022

Link: https://doi.org/10.3390/..

11

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/..

12

Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause..:

Dohrn, Maike ; Rebelo, Adriana ; Srivastava, Siddharth...
Neurology. 98 (2022) 18_supplement - p. , 2022

Link: https://doi.org/10.1212/..

13

De NovoATP1A1Variants in an Early-Onset Complex Neurodevelo..:

Dohrn, Maike F. ; Rebelo, Adriana P. ; Srivastava, Siddharth...
Neurology. 98 (2022) 11 - p. 440-445 , 2022

Link: https://doi.org/10.1212/..

14

Spectrum of Neurological Symptoms in Glycosylphosphatidylin..:

Paprocka, Justyna ; Hutny, Michał ; Hofman, Jagoda...
Frontiers in Neurology. 12 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

15

Quality of Life in Children with Prader–Willi Syndrome and ..:

Rozensztrauch, Anna ; Śmigiel, Robert
International Journal of Environmental Research and Public Health. 19 (2022) 23 - p. 16330 , 2022

Link: https://doi.org/10.3390/..