Results 151 to 160 of about 8,250 (205)

Genetic mutations in Chinese patients with steatocystoma multiplex and mechanistic investigation of <i>KRT17</i> p.Arg94Cys. [PDF]

JAAD Int
Sun J, Zhang L, Li J, Chen H, Zhang C, Ma C.   +5 more
europepmc   +1 more source

Bilateral Boston Keratoprosthesis implantation in a case of keratitis-ichthyosis-deafness syndrome after 31 years of follow-up. [PDF]

Digit J Ophthalmol
Cremona F, Jerabek MP.
europepmc   +1 more source

Concurrent physiologic and gene-based genetic newborn hearing screening in a general population. [PDF]

Hum Genomics
Sun Y, Zhao J, Meng L, Jiang T, Xiang J, Wang X, Guan X, Zhang J, Fan Y, Xu J, Lin Z, Sun X, Huang H, Fan C, Yang J, Peng Z, Xu Z.   +16 more
europepmc   +1 more source

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications. [PDF]

Biomolecules
Lim CK, Cheng MS, Low G, Tang JZ, Ng JH, Ong NG, Leem PS, Lim SA, Thong JF, Tan VYJ.   +9 more
europepmc   +1 more source

A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Entezam M, Farbood Z, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +6 more
europepmc   +1 more source

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns. [PDF]

Open Med (Wars)
Lian J, Wu T, Jin A, Wang H, Cheng Z.
europepmc   +1 more source

Predisposing Factors for Congenital Hearing Loss: A Comprehensive Systematic Review. [PDF]

Turk Arch Otorhinolaryngol
Lalchandani T, Agarwal AC, Tiwari S.
europepmc   +1 more source

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss. [PDF]

Hum Mutat
Rentas S, Rajagopalan R, Ayazseven T, Sarmady M, Raible SE, Krantz ID, Abou Tayoun AN.   +6 more
europepmc   +1 more source

Integrative analysis of EMT-driving genes identifies a prognostic signature and GJB2 as a potential biomarker in glioblastoma. [PDF]

Front Cell Dev Biol
Liu XF, Wang B, Zhou M, Gong D, Zhang JH, He JY, Xiao WT.   +6 more
europepmc   +1 more source

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. [PDF]

Hum Genomics
Gu X, Huang R, Xie J, Shi C, Zhang Y, Liang Z, Wang L, Xiao D, Yuan G, Li C, Chen J, Hao H.   +11 more
europepmc   +1 more source