Results 131 to 140 of about 8,250 (205)

Prevalence of GJB2 gene mutations in nonsyndromic hearing impairments: A systematic review and meta-analysis. [PDF]

Medicine (Baltimore)
Feng R, Mangantig E, Wan Yusoff WSY, Li H, Li X, Abu MN.   +5 more
europepmc   +1 more source

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

Exploring Embryonic and Postnatal Gene Therapy Approaches for GJB2-Related Deafness: A Scoping Review. [PDF]

Audiol Res
Caragli V, Martini A.
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

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

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

The Interphase Gap Effect in Cochlear Implant Users: Biological Basis, Parameter Selection, Analytical Methods, and Quantitative Scales. [PDF]

J Assoc Res Otolaryngol
He S, Gao Z, Oleson JJ, Bruce IC.
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

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

Case Report: Clinical phenotypes and recombinant human growth hormone therapeutic exploration for a patient with Takenouchi-Kosaki syndrome harboring the <i>CDC42</i> p.Arg68Gln variant. [PDF]

Front Pediatr
Lin XX, Song YY, Xue JC, Liu H.
europepmc   +1 more source