I agree that this site is using cookies. You can find further informations here.
X
Tomasz Gambin
337  results:
Search for persons X
?
1

The impact of the Turkish population variome on the genomic..:

Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C....
Genetics in Medicine Open.  2 (2024)  - p. 101830 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Coexisting Conditions Modifying Phenotypes of Patients with..:

Smyk, Marta ; Geremek, Maciej ; Ziemkiewicz, Kamila...
Genes.  14 (2023)  3 - p. 680 , 2023
Link: https://doi.org/10.3390/..
 
?
3

Diminished TMEM100 Expression in a Newborn With Acinar Dysp..:

Szafranski, Przemyslaw ; Patrizi, Silvia ; Gambin, Tomasz...
Pediatric and Developmental Pathology.  27 (2023)  3 - p. 255-259 , 2023
Link: https://doi.org/10.1177/..
 
?
4

SNV/indel hypermutator phenotype in biallelic RAD51C varian..:

Zemet, Roni ; Du, Haowei ; Gambin, Tomasz...
Human Genetics.  142 (2023)  6 - p. 721-733 , 2023
Link: https://doi.org/10.1007/..
 
?
5

HMZDupFinder: a robust computational approach for detecting..:

Du, Haowei ; Dardas, Zain ; Jolly, Angad...
Nucleic Acids Research.  52 (2023)  4 - p. e18-e18 , 2023
Link: https://doi.org/10.1093/..
 
?
6

Variable expressivity in a four-generation ACDMPV family wi..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
European Journal of Human Genetics.  30 (2022)  10 - p. 1182-1186 , 2022
Link: https://doi.org/10.1038/..
 
?
7

Exacerbation of mild lung disorders to lethal pulmonary hyp..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1420-1425 , 2022
Link: https://doi.org/10.1002/..
 
?
8

Loss-of-function variant in chymotrypsin like elastase 3B (..:

Tóth, Andrea ; Demcsák, Alexandra ; Zankl, Florence...
Pancreatology.  22 (2022)  6 - p. 713-718 , 2022
Link: https://doi.org/10.1016/..
 
?
9

Postzygotic mutations and where to find them – Recent advan..:

Wasilewska, Krystyna ; Gambin, Tomasz ; Rydzanicz, Małgorzata..
Mutation Research/Reviews in Mutation Research.  790 (2022)  - p. 108426 , 2022
Link: https://doi.org/10.1016/..
 
?
10

Cloud-native distributed genomic pileup operations:

Wiewiórka, Marek ; Szmurło, Agnieszka ; Stankiewicz, Paweł..
Bioinformatics.  39 (2022)  1 - p. , 2022
Link: https://doi.org/10.1093/..
 
?
11

The Thousand Polish Genomes—A Database of Polish Variant Al..:

Kaja, Elżbieta ; Lejman, Adrian ; Sielski, Dawid...
International Journal of Molecular Sciences.  23 (2022)  9 - p. 4532 , 2022
Link: https://doi.org/10.3390/..
 
?
12

Ultra-conserved non-coding sequences within the FOXF1 enhan..:

Szafranski, Przemyslaw ; Majewski, Tadeusz ; Yıldız Bölükbaşı, Esra...
Genes & Diseases.  9 (2022)  6 - p. 1423-1426 , 2022
Link: https://doi.org/10.1016/..
 
?
13

High‐level gonosomal mosaicism for a pathogenic non‐coding ..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
Molecular Genetics & Genomic Medicine.  10 (2022)  11 - p. , 2022
Link: https://doi.org/10.1002/..
 
?
14

Do paternal deletions involving the FOXF1 locus on chromoso..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Gambin, Tomasz...
European Journal of Medical Genetics.  65 (2022)  6 - p. 104519 , 2022
Link: https://doi.org/10.1016/..
 
?
15

Variants in the pancreatic CUB and zona pellucida-like doma..:

Rygiel, Agnieszka Magdalena ; Unger, Lara Sophie ; Sörgel, Franziska Lena...
Pancreatology.  22 (2022)  5 - p. 564-571 , 2022
Link: https://doi.org/10.1016/..
 
1-15