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1

Troponin T Assessment Allows for Identification of Mutation..:

Chmielewski, Przemysław ; Kowalik, Ilona ; Truszkowska, Grażyna...
Journal of Clinical Medicine. 13 (2024) 11 - p. 3164 , 2024

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

2

A Study of Polish Family with Scoliosis and Limb Contractur..:

Frasuńska, Justyna ; Pollak, Agnieszka ; Turczyn, Paweł...
Genes. 15 (2024) 1 - p. 125 , 2024

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

3

Phenotypic and functional assessment of two novel KCNQ2 gai..:

Bayat, Allan ; Iavarone, Stefano ; Miceli, Francesco...
Neurotherapeutics. 21 (2024) 1 - p. e00296 , 2024

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

4

Genebe.net: Implementation and validation of an automatic A..:

Stawiński, Piotr ; Płoski, Rafał
Clinical Genetics. 106 (2024) 2 - p. 119-126 , 2024

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

5

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare..:

Paulus, Theresa ; Young, Natalie ; Jessop, Emily...
Muscles. 3 (2024) 1 - p. 100-109 , 2024

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

6

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/..

7

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and ..:

Paprocka, Justyna ; Nowak, Magdalena ; Machnikowska-Sokołowska, Magdalena..
Genes. 15 (2024) 3 - p. 350 , 2024

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

8

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old ..:

Badeńska, Marta ; Pac, Małgorzata ; Badeński, Andrzej...
International Journal of Molecular Sciences. 25 (2024) 8 - p. 4486 , 2024

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

9

Case report: Variants in the ERCC4 gene as a rare cause of ..:

Kulikowska, Joanna ; Jakubiuk-Tomaszuk, Anna ; Rydzanicz, Małgorzata...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

10

The Impaired Wound Healing Process Is a Major Factor in Rem..:

Jaskiewicz, Katarzyna ; Maleszka-Kurpiel, Magdalena ; Matuszewska, Eliza...
Investigative Opthalmology & Visual Science. 64 (2023) 2 - p. 22 , 2023

Link: https://doi.org/10.1167/..

11

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/..

12

Impact of maternal T1D but not cesarean delivery on the neo..:

Jochum Jr., Michael D. ; Gajęcka, Marzena ; Gutaj, Pawel...
American Journal of Obstetrics and Gynecology. 228 (2023) 1 - p. S701-S702 , 2023

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

13

Macrocephaly and developmental delay caused by missense var..:

Koop, Klaas ; Yuan, Weimin ; Tessadori, Federico...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023

Link: https://doi.org/10.1093/..

14

DCDC2-Related Ciliopathy: Report of Six Polish Patients, No..:

Lipiński, Patryk ; Ciara, Elżbieta ; Jurkiewicz, Dorota...
Diagnostics. 13 (2023) 11 - p. 1917 , 2023

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

15

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDM..:

Bzdęga, Katarzyna ; Kutkowska-Kaźmierczak, Anna ; Deutsch, Gail H....
Genes. 14 (2023) 3 - p. 563 , 2023

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