E-LIB Suche - Ergebnisse für: Kornak, Uwe

1

Zebrafish as a model to investigate a biallelic gain-of-fun..:

Koparir, Asuman ; Lekszas, Caroline ; Keseroglu, Kemal...
Human Genomics. 18 (2024) 1 - p. , 2024

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

2

Multi‐gene panel sequencing in highly consanguineous famili..:

Kakar, Naseebullah ; Rehman, Fazal ur ; Kaur, Ramandeep...
Clinical Genetics. , 2024

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

3

Loss-of-function variants affecting the STAGA complex compo..:

Kopp, Johannes ; Koch, Leonard A. ; Lyubenova, Hristiana...
Human Genetics. 143 (2024) 5 - p. 683-694 , 2024

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

4

The 3D gene regulatory landscape in human bone cells and it..:

Ali, Salaheddine , 2023

Link: https://nbn-resolving.de..

5

Schwere Osteoporose unklarer Genese- Ergebnisse intensiver ..:

Schneider, Anna , 2023

Link: https://nbn-resolving.de..

6

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1470-1481 , 2023

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

7

CLCN7, a gene shared by autosomal recessive and autosomal d..:

Stauber, Tobias ; Wartosch, Lena ; Vishnolia, Svenja..
Bone. 168 (2023) - p. 116639 , 2023

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

8

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine. 25 (2023) 5 - p. 100799 , 2023

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

9

CRISPR/Cas9-mediated rescue of osteoclast function in a ste..:

Gajewski, Dario ; Hennig, Anna Floriane ; Rössler, Uta...
Bone Reports. 16 (2022) - p. 101507 , 2022

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

10

Genetic Diagnostics in Routine Osteological Assessment of A..:

Oheim, Ralf ; Tsourdi, Elena ; Seefried, Lothar...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 7 - p. e3048-e3057 , 2022

Link: https://doi.org/10.1210/..

11

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine. 24 (2022) 10 - p. 2187-2193 , 2022

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

12

Alternative splicing of BUD13 determines the severity of a ..:

Kornak, Uwe ; Saha, Namrata ; Keren, Boris...
Genetics in Medicine. 24 (2022) 9 - p. 1927-1940 , 2022

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

13

Dissecting the influence of cellular senescence on cell mec..:

Brauer, Erik ; Lange, Tobias ; Keller, Daniela...
Aging Cell. 22 (2022) 3 - p. , 2022

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

14

Relevant genetic variants are common in women with pregnanc..:

Butscheidt, Sebastian ; Tsourdi, Elena ; Rolvien, Tim...
Bone. 147 (2021) - p. 115911 , 2021

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

15

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells f..:

Amini, Leila ; Wagner, Dimitrios Laurin ; Rössler, Uta...
Molecular Therapy. 29 (2021) 1 - p. 32-46 , 2021

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