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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 2 |
2024 | 5 |
Search Results
7 results
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Page 1
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874.
Int J Mol Sci. 2023.
PMID: 36768210
Free PMC article.
Review.
METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway.
Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y.
Ma L, et al.
Cell Death Dis. 2024 Mar 20;15(3):229. doi: 10.1038/s41419-024-06606-9.
Cell Death Dis. 2024.
PMID: 38509077
Free PMC article.
Item in Clipboard
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B.
Shadab M, et al.
J Cell Mol Med. 2024 Apr;28(8):e18119. doi: 10.1111/jcmm.18119.
J Cell Mol Med. 2024.
PMID: 38534090
Free PMC article.
Review.
Item in Clipboard
Rethinking non-syndromic hearing loss and its mimics in the genomic era.
Vona B.
Vona B.
Eur J Hum Genet. 2024 Mar 6. doi: 10.1038/s41431-024-01579-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38443547
No abstract available.
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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D.
Koparir A, et al.
Hum Genomics. 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w.
Hum Genomics. 2024.
PMID: 38448978
Free PMC article.
Item in Clipboard
mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat.
Engert J, Doll J, Vona B, Ehret Kasemo T, Spahn B, Hagen R, Rak K, Voelker J.
Engert J, et al.
Life (Basel). 2023 Sep 2;13(9):1858. doi: 10.3390/life13091858.
Life (Basel). 2023.
PMID: 37763262
Free PMC article.
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Catching up but still miles behind-a patient registry for otoferlin.
Vona B, Wollnik B, Strenzke N, Moser T.
Vona B, et al.
Exp Mol Med. 2024 Jun 3. doi: 10.1038/s12276-024-01247-6. Online ahead of print.
Exp Mol Med. 2024.
PMID: 38825639
No abstract available.
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