Results 171 to 180 of about 127,275 (301)

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Clinical Trials in Adult Communication and Swallowing Disorders: Building the Evidence Base for Patient-Centered Care. [PDF]

J Speech Lang Hear Res
Cherney LR.
europepmc   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

O caminho para a aprendizagem da língua é icónico: evidências da Língua Gestual Britânica

Cadernos de Saúde, 2013
Robin L. Thompson, David Vinson, Benice Woll, Gabriella Vigliocco   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border. [PDF]

Clin Genet
Lanehart D, Gray M, Sierra R, Maldonado C, Brooks D, Dai H, Rahimtoola A, Magallan S, Rodriguez S, Gamez J, Rosenlund P, Mulukutla SN, Allegre A, Berry L, Lee B, Scott DA, Vuocolo B, Lalani SR.   +17 more
europepmc   +1 more source

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Reprogramming translation for rare disease therapy: challenges posed by large genes. [PDF]

Signal Transduct Target Ther
Pattnaik BR, Sahel JA.
europepmc   +1 more source

The otolaryngologist and deafness

Brazilian Journal of Otorhinolaryngology, 2014
openaire   +4 more sources

Psychiatric and Neurodevelopmental Outcomes in Swedish Children With Hearing Loss due to Congenital Cytomegalovirus Infection: A Cross‐Sectional Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To investigate parent‐reported psychiatric, neurodevelopmental and adaptive functioning outcomes in children with congenital cytomegalovirus (cCMV)‐related sensorineural hearing loss. Methods Parents of children aged 5–12 years were recruited nationwide in Sweden into three groups: children with congenital cytomegalovirus‐related ...
A. Michel Sandström, E. Karltorp, U. Löfkvist   +2 more
wiley   +1 more source

The Moral (Un)Desirability of New Biomedical Technologies as Potential Techno‐Fixes

Bioethics, EarlyView.
ABSTRACT The techno‐fix argument, used to argue against technological interventions that address the consequences of social problems instead of their underlying causes, is increasingly invoked in biomedical discussions. However, especially in biomedicine, the techno‐fix argument remains conceptually underdeveloped.
Lieke van Kempen, Martine C. de Vries, Nienke de Graeff   +2 more
wiley   +1 more source