E-LIB Suche - Ergebnisse für: Havlovicova, Marketa

1

Body mass index is an overlooked confounding factor in exis..:

Schwarz, Martin ; Geryk, Jan ; Havlovicová, Markéta...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

2

Functional studies associate novel DUOX2 gene variants dete..:

Schwarz, Martin ; Gazdarica, Matej ; Froňková, Eva...
Molecular Biology Reports. 51 (2024) 1 - p. , 2024

Link: https://doi.org/10.1007/..

3

Disruption of OVOL2 Distal Regulatory Elements as a Possibl..:

Dudakova, Lubica ; Noskova, Lenka ; Kmoch, Stanislav...
Human Mutation. 2024 (2024) - p. 1-10 , 2024

Link: https://doi.org/10.1155/..

4

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

5

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

6

Co-designing models for the communication of genomic result..:

Costa, Alessia ; Franková, Věra ; Robert, Glenn...
Journal of Community Genetics. 13 (2022) 3 - p. 313-327 , 2022

Link: https://doi.org/10.1007/..

7

Correction to: Co‑designing models for the communication of..:

Costa, Alessia ; Franková, Věra ; Robert, Glenn...
Journal of Community Genetics. 13 (2022) 3 - p. 365-369 , 2022

Link: https://doi.org/10.1007/..

8

Zimmermann–Laband syndrome in monozygotic twins with a mild..:

Schwarz, Martin ; Ryba, Lukáš ; Křepelová, Anna...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1083-1087 , 2021

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

9

Expanding the phenotype spectrum associated with pathogenic..:

Čopíková, Jana ; Paděrová, Jana ; Románková, Věra...
Annals of Human Genetics. 84 (2020) 5 - p. 380-392 , 2020

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

10

The Key Role of Purine Metabolism in the Folate-Dependent P..:

Geryk, Jan ; Krsička, Daniel ; Vlčková, Markéta...
Metabolites. 10 (2020) 5 - p. 184 , 2020

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

11

Assisted Reproductive Techniques and Pregnancy Results in W..:

Chmel, Roman ; Cekal, Milos ; Pastor, Zlatko...
Journal of Pediatric and Adolescent Gynecology. 33 (2020) 4 - p. 410-414 , 2020

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

12

Telemedicine strategy of the European Reference Network ITH..:

on behalf of ERN ITHACA ; Smith, Michael ; Alexander, Elizabeth...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

13

De novo SMARCA2 variants clustered outside the helicase dom..:

Cappuccio, Gerarda ; Sayou, Camille ; Tanno, Pauline Le...
Genetics in Medicine. 22 (2020) 11 - p. 1838-1850 , 2020

Link: https://doi.org/10.1038/..

14

The clinical significance of A2ML1 variants in Noonan syndr..:

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina...
European Journal of Human Genetics. 29 (2020) 3 - p. 524-527 , 2020

Link: https://doi.org/10.1038/..

15

Parental gonadal but not somatic mosaicism leading to de no..:

Hancarova, Miroslava ; Havlovicova, Marketa ; Putzova, Martina...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2119-2123 , 2019

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