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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

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/..

3

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/..

4

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/..

5

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/..

6

Clinical heterogeneity of polish patients with KAT6B–relate..:

Magdalena, Klaniewska ; Anna, Bolanowska‐Tyszko ; Anna, Latos‐Bielenska...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

7

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/..

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

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/..

10

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/..

11

Establishment of a condition-specific quality-of-life quest..:

Dellenmark Blom, Michaela ; Witt, Stefanie ; Zendejas, Benjamin...
10.3389/fped.2023.1253892. , 2023

Link: https://hdl.handle.net/2..

12

Epigenetic Findings in Twins with Esophageal Atresia:

Michal Błoch ; Piotr Gasperowicz ; Sylwester Gerus...
https://www.mdpi.com/2073-4425/14/9/1822. , 2023

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

13

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178846/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Clinical heterogeneity of polish patients with KAT6B–relate..:

Magdalena, Klaniewska ; Anna, Bolanowska‐Tyszko ; Anna, Latos‐Bielenska...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10724496/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Expression Quantitative Trait Methylation Analysis Identifi..:

Izabela M. Krzyzewska ; Peter Lauffer ; Adri N. Mul...
https://www.mdpi.com/1422-0067/24/7/6601. , 2023

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

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