Results 111 to 120 of about 1,143,125 (138)

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics. [PDF]

Mol Med
Koparir A, Carbajal PB, Zamini M, Naghinejad M, Najarzadeh Torbati P, Hofrichter MAH, Tovornik S, Koparir E, Dragicevic Babic N, Rad A, Owrang D, Kalay I, Chamanrou N, Martínez Völter LN, Christophersen N, Baranzehi T, Rajati M, Loum S, Kunstmann E, Shadab M, Abbasi AA, Doosti M, Alidadiani N, Ghaderi S, Haack TB, Alavi S, Doll J, Kremer H, Kordi-Tamandani DM, Murphy D, Mohammad R, Hebestreit H, Ghayoor Karimiani E, Flandin S, Linares P, Villalobos D, Houlden H, Galehdari H, Shehata-Dieler W, Maroofian R, Haaf T, Vona B.   +41 more
europepmc   +1 more source

Increasing Genetic Testing Uptake Through Workflow Optimization: A Quality Improvement Study in Pediatric Hearing Loss. [PDF]

Children (Basel)
Coto J, Morris JA, Yunis V, Sanchez CM, Liu XZ, Cejas I.   +5 more
europepmc   +1 more source

When hearing loss mimics autism: Enlarged vestibular aqueduct syndrome in an 11-year-old child-A case report. [PDF]

J Int Med Res
Alras A, Alfandi A, Khattab K, Hejaze B, Almoazen S, AlHourani AA, Abo Al Shamat A, Jumaa A, Alsharef Y, Alras T, Almukbel R, Othman H.   +11 more
europepmc   +1 more source

From neural development to regenerative medicine: A research journey in stem cell biology, spinal cord repair, and iPSC-based drug discovery. [PDF]

Regen Ther
Okano H.
europepmc   +1 more source

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement. [PDF]

J Audiol Otol
Miolo G, Margiotta F, Murgia A, Puppa LD, Corona G.   +4 more
europepmc   +1 more source

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism. [PDF]

Endocrine
Islam MS, Dumitrescu AM, Ahmed A, Refetoff S, Weiss RE.   +4 more
europepmc   +1 more source

Approach to the patient: genetics and management of congenital hypothyroidism.

J Clin Endocrinol Metab
Nguyen Quoc A, Kariyawasam D, Polak M, Carré A, Stoupa A.   +4 more
europepmc   +1 more source