Results 121 to 130 of about 8,250 (205)

Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report. [PDF]

Case Rep Obstet Gynecol
Bourdil L, Georgia Blume C.
europepmc   +1 more source

Genome-wide CRISPR screening identifies cellular factors controlling nonviral genome editing efficiency. [PDF]

Nat Commun
Saxena S, Kabra M, Abdeen AA, Tabima DM, Sinha D, Rawding PA, Zhu M, Xie R, Kulkarni T, Hanstad GM, Fernandez Zepeda MA, Gamm DM, Pattnaik BR, Gong S, Saha K.   +14 more
europepmc   +1 more source

Maternal Gestational Diabetes Mellitus as an Independent Risk Factor for Hearing Impairment in Hyperbilirubinemia Newborns: A Prospective Birth Cohort With Genetic Profiling. [PDF]

Noise Health
Ruan L, Su X, Yan L, Zheng Z.
europepmc   +1 more source

Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program. [PDF]

BMC Med Genomics
Qi X, Wang D, Liu S, Jiao B, Tian X, Dai P, Su Y.   +6 more
europepmc   +1 more source

Recent Progress in Mechanism-Based Therapies for <i>GJB2</i>-Related Hearing Loss. [PDF]

Int J Mol Sci
Liu C, Wang X, Sun Y.
europepmc   +1 more source

Multi-omics single-cell dissection of malignant epithelial heterogeneity identifies GJB2 as an EMT-driving biomarker in triple-negative breast cancer. [PDF]

BMC Med Genomics
Xu H, Zhang C, Zhang X, Zhang S, Zhou G.
europepmc   +1 more source

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives. [PDF]

Int J Mol Sci
Qiu W, Schneider K, Guo Y.
europepmc   +1 more source

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants. [PDF]

J Med Genet
Li J, Zhan Z, Zhang X, Wu B, Liu W.
europepmc   +1 more source

Association of GJB2 P.V37I With Sudden Sensorineural Hearing Loss and Endoplasmic Reticulum Stress. [PDF]

Otolaryngol Head Neck Surg
Lien KH, Tsai CL, Lee YS, Chen TY, Chao WC, Hu CY, Chang PH, Tsai CN.   +7 more
europepmc   +1 more source

Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation. [PDF]

Otol Neurotol
Chang TG, Chen YM, Chen IC, Hsu CY, Yen TT.   +4 more
europepmc   +1 more source