Results 121 to 130 of about 7,994 (153)

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss. [PDF]

EBioMedicine
Xiao Y, Chen L, Han Y, Luo J, Wang M, Ai Y, Liu W, Xiong W, Jin Y, Kong S, Xu K, Fan Z, Xu L, Wang H.   +13 more
europepmc   +1 more source

Identification of Novel <i>LOXHD1</i> Variants in Chinese Patients with Non-Syndromic Hearing Loss. [PDF]

J Otol
Zhang K, Xin X, Huang S, Hou B, Xu X, Qu P, Han X, Zhang H.   +7 more
europepmc   +1 more source

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families. [PDF]

Mol Biol Rep
Jagannath K, Bhat N, Ghosh A, Tawade H, Cherian S, Shettigar S.   +5 more
europepmc   +1 more source

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand. [PDF]

Sci Rep
Damrongchietanon T, Wattanasirichaigoon D, Khongkraparn A, Noojarern S, Tiravanitchakul R, Kasemkosin N, Kiatthanabumrung S, Tim-Aroon T, Wongkittichote P.   +8 more
europepmc   +1 more source

Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan. [PDF]

Front Pediatr
Mu Y, Han M, Li Y, Di H, Li Z, Li H, Wang D, Li X, Zhang L, An H.   +9 more
europepmc   +1 more source

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants. [PDF]

Otolaryngol Head Neck Surg
Vigouroux A, Glemain B, Torres R, Jonard L, Loundon N, Ferrary E, Mosnier I, Daoudi H, Marlin S, Lahlou G.   +9 more
europepmc   +1 more source

Hidden and Delayed-Onset Hearing Loss in Children: Limitations of Newborn Hearing Screening and Future Directions. [PDF]

Children (Basel)
Kravos A.
europepmc   +1 more source

A Six-Gene Mitochondrial Signature Predicts Prognosis in Dedifferentiated Thyroid Cancer. [PDF]

Int J Gen Med
Lu C, Wang X.
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence. [PDF]

JCEM Case Rep
Choong IEX, Chen SC, Shaikh MG.
europepmc   +1 more source