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

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

First genome-wide association study of esophageal atresia i..:

Gehlen, Jan ; Giel, Ann-Sophie ; Köllges, Ricarda...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100093 , 2022

Link: https://doi.org/10.1016/..

11

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/..

12

iPSC-derived myelinoids to study myelin biology of humans:

James, Owen G. ; Selvaraj, Bhuvaneish T. ; Magnani, Dario...
Developmental Cell. 57 (2022) 1 - p. 146 , 2022

Link: https://doi.org/10.1016/..

13

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Defic..:

Paprocka, Justyna ; Nowak, Magdalena ; Chuchra, Piotr.
Metabolites. 12 (2022) 10 - p. 955 , 2022

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

14

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/..

15

Reliability and Validity of the Polish Version of the Esoph..:

Rozensztrauch, Anna ; Śmigiel, Robert ; Patkowski, Dariusz...
International Journal of Environmental Research and Public Health. 19 (2022) 13 - p. 8047 , 2022

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