Results 121 to 130 of about 5,521 (170)

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics. [PDF]

Genes (Basel)
Kutija Fučkar I, Zajc Petranović M, Martinović Klarić I, Peričić Salihović M, Barać Lauc L.   +4 more
europepmc   +1 more source

Transcriptomic characterization of key psoriasis-associated genes based on single-cell RNA-seq and machine learning. [PDF]

PLoS One
Wang W, Zhang Q, Xu S.
europepmc   +1 more source

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders. [PDF]

Genome Med
Xiao B, Liu H, Sun Y, Su X, Chinese Medical Doctor Association of Genetics Counselling Board, Xie X, Xu Z, Ren F, Peng Y, Hui L, Xu L, Zhang C, Duan J, Zhang J, Li J, Xue S, Liao S, Liu L, Zhao Z, Yuan D, Qiu J, Zhang F, Huang Y, Ha Y, Yu L, Tang K, Li X, Pan W, Shu J, Zhu J, Meng L, Xu C, Mao A, Yan N, Yu Y.   +34 more
europepmc   +1 more source

A Bioinformatics and Wet-Lab-Based Pipeline Identifies <i>CLDN10</i> and <i>GJB2</i> as Epigenetically Silenced Tumor Suppressor Genes in Cutaneous Melanoma. [PDF]

Int J Mol Sci
Arroyo Villora S, Baumann VX, Zhao Y, Philipp N, Dammann RH, Sigges C, Richter AM.   +6 more
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

Reproductive carrier screening among Chinese couples experiencing unexplained recurrent pregnancy loss. [PDF]

BMC Pregnancy Childbirth
Duan H, Jiang Z, Zhang Y, Zhou C, Li J.
europepmc   +1 more source

Gene editing of the GJB2 locus in porcine embryos using CRISPR/Cas9 and cytosine base editors: toward a model of congenital deafness. [PDF]

Sci Rep
Piñeiro-Silva C, Bermejo-Álvarez P, García-Purriños FJ, Gadea J.   +3 more
europepmc   +1 more source

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre. [PDF]

Clin Otolaryngol
Sakin I, Swords C, Ball J, Oakley-Hannibal E, Cunniffe H, Holden S, Bance M, Bewick J.   +7 more
europepmc   +1 more source

Precision Diagnostics in Age-Related Hearing Loss: Emerging Molecular Biomarkers for Early Detection and Targeted Prevention. [PDF]

Int J Gen Med
Xia Z, Lin C, Wu Y, Liu H, Wu L, Shen Z.
europepmc   +1 more source

Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations. [PDF]

Genet Med Open
Cheng KH, Kirby R, Lin MW, Wu CC, Hsu CC, Tsai SF.   +5 more
europepmc   +1 more source