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1 . Academic Journal
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
저자
by
Mendia, Clara
;
Peineau, Thibault
;
Zamani, Mina
;
Felgerolle, Chloé
;
Yahiaoui, Nawal
, et al.
소스
In
Molecular Therapy
6 March 2024 32(3):800-817
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7 . Academic Journal
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
저자
by
Maroofian, Reza
;
Zamani, Mina
;
Kaiyrzhanov, Rauan
;
Liebmann, Lutz
;
Karimiani, Ehsan Ghayoor
, et al.
소스
In
Genetics in Medicine
March 2024 26(3)
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7 . Academic Journal
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
저자
by
Metspalu, Andres
;
Nelis, Mari
;
Mägi, Reedik
;
Esko, Tõnu
;
Trpchevska, Natalia
, et al.
소스
In
The American Journal of Human Genetics
2 June 2022 109(6):1077-1091
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7 . Academic Journal
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
저자
by
Lin, Sheng-Jia
;
Vona, Barbara
;
Barbalho, Patricia G.
;
Kaiyrzhanov, Rauan
;
Maroofian, Reza
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1933-1943
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7 . Academic Journal
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss
저자
by
Hofrichter, Michaela A.H.
;
Doll, Julia
;
Habibi, Haleh
;
Enayati, Samaneh
;
Vahidi Mehrjardi, Mohammad Yahya
, et al.
소스
In
European Journal of Medical Genetics
October 2019 62(10)
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7 . Academic Journal
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
저자
by
Efthymiou, Stephanie
;
Scala, Marcello
;
Nagaraj, Vini
;
Ochenkowska, Katarzyna
;
Komdeur, Fenne L
, et al.
소스
Brain: A Journal of Neurology
. May2024, Vol. 147 Issue 5, p1822-1836. 15p.
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7 . Academic Journal
Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades.
저자
by
Shadab, Madiha
;
Abbasi, Ansar Ahmed
;
Ejaz, Ahsan
;
Ben‐Mahmoud, Afif
;
Gupta, Vijay
, et al.
소스
Journal of Cellular & Molecular Medicine; Apr2024, Vol. 28 Issue 8, p1-15, 15p
Open Access (Wiley)
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7 . Academic Journal
Ca
2+
binding to the C
2
E domain of otoferlin is required for hair cell exocytosis and hearing.
저자
by
Chen, Han
;
Monga, Mehar
;
Fang, Qinghua
;
Slitin, Loujin
;
Neef, Jakob
, et al.
소스
Protein & Cell; Apr2024, Vol. 15 Issue 4, p305-312, 8p
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7 . Periodical
Ca2+binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
저자
by
Chen, Han
;
Monga, Mehar
;
Fang, Qinghua
;
Slitin, Loujin
;
Neef, Jakob
, et al.
소스
Protein & Cell; April 2024, Vol. 15 Issue: 4 p305-312, 8p
Open Access (OUP)
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7 . Academic Journal
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
저자
by
Koparir, Asuman
;
Lekszas, Caroline
;
Keseroglu, Kemal
;
Rose, Thalia
;
Rappl, Lena
, et al.
소스
Human Genomics; 3/6/2024, Vol. 18 Issue 1, p1-13, 13p
Open Access (BioMed Central)
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