Guney Bademci
10PUBLICATIONS
65CO-AUTHORS
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Publications (10)
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|Jan 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar
|Feb 14, 2024
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.Duygu Duman, Memoona Ramzan, Asli Subasioglu
|Feb 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.Irman Forghani, Steven H Lang, Matthew J Rodier
|Aug 02, 2023
<i>VARS1</i> mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain.Semra Hiz, Seval Kiliç, Güney Bademci
|Jun 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar
|May 11, 2022
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.B Vona, D A Schwartzbaum, A A Rodriguez
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