E-LIB Suche - Ergebnisse für: Barbara Vona

1

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

2

METTL3-dependent m6A modification of PSEN1 mRNA regulates c..:

Ma, Lan ; Zhou, Xi ; Yao, Siyue...
Cell Death & Disease. 15 (2024) 3 - p. , 2024

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

3

Clarin-2 gene supplementation durably preserves hearing in ..:

Mendia, Clara ; Peineau, Thibault ; Zamani, Mina...
Molecular Therapy. 32 (2024) 3 - p. 800-817 , 2024

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

4

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/..

5

PKHD1L1, a gene involved in the stereocilia coat, causes au..:

Redfield, Shelby E. ; De-la-Torre, Pedro ; Zamani, Mina...
Human Genetics. 143 (2024) 3 - p. 311-329 , 2024

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

6

Catching up but still miles behind—a patient registry for o..:

Vona, Barbara ; Wollnik, Bernd ; Strenzke, Nicola.
Experimental & Molecular Medicine. 56 (2024) 6 - p. 1472-1473 , 2024

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

7

Autosomal recessive non‐syndromic hearing loss genes in Pak..:

Shadab, Madiha ; Abbasi, Ansar Ahmed ; Ejaz, Ahsan...
Journal of Cellular and Molecular Medicine. 28 (2024) 8 - p. , 2024

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

8

Genetic heterogeneity in hereditary hearing loss: Potential..:

Ramzan, Memoona ; Zafeer, Mohammad Faraz ; Abad, Clemer...
European Journal of Human Genetics. 32 (2024) 6 - p. 639-646 , 2024

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

9

Gene therapy for deafness: are we there now?:

Moser, Tobias ; Chen, Han ; Kusch, Kathrin..
EMBO Molecular Medicine. 16 (2024) 4 - p. 675-677 , 2024

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

10

A burden shared: The evolutionary case for studying human d..:

Guan, Chonglin ; Shaikh, Muhammad ; Warnecke, Athanasia..
Hearing Research. 450 (2024) - p. 109047 , 2024

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

11

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

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

12

Expanding the spectrum of phenotypes for MPDZ: Report of fo..:

Rad, Aboulfazl ; Bartsch, Oliver ; Bakhtiari, Somayeh...
Clinical Genetics. , 2024

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

13

Rethinking non-syndromic hearing loss and its mimics in the..:

Vona, Barbara
European Journal of Human Genetics. , 2024

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

14

Not to Miss: Intronic Variants, Treatment, and Review of th..:

Pauly, Martje G. ; Brüggemann, Norbert ; Efthymiou, Stephanie...
International Journal of Molecular Sciences. 24 (2023) 3 - p. 1874 , 2023

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

15

mRNA Abundance of Neurogenic Factors Correlates with Hearin..:

Engert, Jonas ; Doll, Julia ; Vona, Barbara...
Life. 13 (2023) 9 - p. 1858 , 2023

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