Results 121 to 130 of about 2,527,901 (173)

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families. [PDF]

Hum Genomics
Idyahia A, Redouane S, Chentoufi FE, Charoute H, El Hamouchi A, Benrahma H, Barakat A.   +6 more
europepmc   +1 more source

Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing. [PDF]

BMC Med Genomics
Abghari FZ, Esmaeilzadeh E, Biglari S, Ghasemi H, Mohseni M, Shahmohammad N, Khorshid HRK, Najafipour R.   +7 more
europepmc   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan. [PDF]

Sci Rep
Ramzan M, Idrees H, Khan H, Faridi R, Munir Z, Muzaffar F, Shabbir K, Imtiaz A, Noman M, Ahmed A, Bashir R, Khan NM, Maqsood A, Mujtaba G, Salman M, Bukhari I, Munir HMW, Tariq H, Waqas M, Iqbal MN, Wohler E, Witmer PD, Sobreira N, Morell RJ, Seo GH, Inagaki S, Friedman TB, Naz S.   +27 more
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

Dual ectopic thyroid located at the tongue base and left parapharyngeal space with transient congenital hypothyroidism. [PDF]

JCEM Case Rep
Kiuchi K, Kusano C, Hori N, Narumi S, Hasegawa T.   +4 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

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

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

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