Results 111 to 120 of about 7,382 (203)

Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant <i>MYO7A</i>-Associated Hearing Loss Patients. [PDF]

Genes (Basel)
Koizumi H, Nishio SY, Usami SI, Deafness Gene Study Consortium.   +3 more
europepmc   +1 more source

Parental experience of whole genome sequencing for children with sensorineural hearing loss. [PDF]

Int J Qual Stud Health Well-being
Elander J, Värendh M, Ehinger JK, Stenfeldt K, Widén S.   +4 more
europepmc   +1 more source

Immobilisation of free-ranging Galapagos sea lions [PDF]

, 1979
Trillmich, F., Wiesner, Henning
core   +1 more source

Inherited retinal disorders in Scotland: A 5 year assessment. [PDF]

Eye (Lond)
Hazelwood JE, Sevgi M, Osborne F, Staniszewski B, George N, Ionean A, Gilmour DF, Megaw R.   +7 more
europepmc   +1 more source

A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning. [PDF]

Biomolecules
Thelagathoti RK, Tom WA, Chandel DS, Jiang C, Krzyzanowski G, Olou A, Fernando MR.   +6 more
europepmc   +1 more source

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis. [PDF]

Genes (Basel)
Kulyamzin S, Leibu R, Newman H, Ehrenberg M, Goldenberg-Cohen N, Zayit-Soudry S, Mezer E, Rotenstreich Y, Deitch I, Panneman DM, Zur D, Chervinsky E, Shalev SA, Cremers FPM, Sharon D, Roosing S, Ben-Yosef T.   +16 more
europepmc   +1 more source

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes. [PDF]

Int J Mol Sci
Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T.   +3 more
europepmc   +1 more source

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal. [PDF]

Orphanet J Rare Dis
Machado T, Cortinhal T, Carvalho AL, Teixeira-Marques F, Silva R, Murta J, Marques JP.   +6 more
europepmc   +1 more source

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. [PDF]

Front Endocrinol (Lausanne)
Flanagan SE, Lazaridi IA, Männistö JME, Bennett JJ, Kalyon O, Johnson MB, Wakeling MN, Houghton JAL, Laver TW.   +8 more
europepmc   +1 more source

Structural Abnormalities of the Brain Detected by 7 Tesla MRI in Patients with Usher Syndrome. [PDF]

J Clin Med
Nowomiejska K, Czarnek-Chudzik A, Niedziałek A, Toborek M, Midura M, Rejdak R, Pietura R.   +6 more
europepmc   +1 more source