Results 141 to 150 of about 8,250 (205)

Carrier frequency of autosomal recessive monogenic disorders in the peruvian population. [PDF]

Front Genet
Abarca Barriga HH, Vásquez-Sotomayor FDM, Punil Luciano R.   +2 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

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

Vohwinkel syndrome: Clinical and genetic insights from 26 years of follow-up. [PDF]

JAAD Case Rep
Sacknovitz Y, Schreidah CM, Kent JA, Galbut A, Wiederkehr A, Rosenfeld A, Alter TH, Geskin LJ.   +7 more
europepmc   +1 more source

E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome. [PDF]

Int Med Case Rep J
Chen B, Xu X, Zhou F.
europepmc   +1 more source

A population-specific genomic reference panel for Taiwan: NHRI-RP-1. [PDF]

J Biomed Sci
Cheng KH, Chen YR, Chung RH, Lin MW, Weng HY, Lin YR, Lin YF, Hsu JS, Kirby R, Chuang SY, Liu YL, Huang SK, Chen WJ, Hsu CC, Sheu WH, Tsai SF.   +15 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

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies. [PDF]

Int J Mol Sci
Morris JA, Gonzalez T, Blanton SH, Angeli SI, Liu XZ.   +4 more
europepmc   +1 more source

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487). [PDF]

PLoS One
Ren B, Wu Y, Gan W, Zhang Q, Yang D, Cao W, Zhang X, Jiang Y, Zhang Y, Guo B, Tie Y, Liu J, Cai G, Wang Y, Ma Y.   +14 more
europepmc   +1 more source