Results 131 to 140 of about 163,801 (186)

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

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

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

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

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

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

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets. [PDF]

Am J Med Genet C Semin Med Genet
Redfield SE, Mauriac SA, Géléoc GS, Shearer AE.   +3 more
europepmc   +1 more source

Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Yadav B, Khadka T, Shah TJ, Phuyal MP, Lamichane R, Chaurasiya B.   +5 more
europepmc   +1 more source

Geriatric syndromes extraction from discharge summaries: a new dataset, annotation scheme and initial findings. [PDF]

Front Digit Health
Guellil I, Andres S, Anand A, Guthrie B, Rahman F, Hasan A, Zhang H, Wu H, Alex B.   +8 more
europepmc   +1 more source

Cloud-Based Personalized sEMG Classification Using Lightweight CNNs for Long-Term Haptic Communication in Deaf-Blind Individuals. [PDF]

Bioengineering (Basel)
Tatavarty K, Johnson M, Rubinsky B.
europepmc   +1 more source