Results 71 to 80 of about 98,475 (199)

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

open access: yesThe Journal of Pathology, Volume 269, Issue 2, Page 222-231, June 2026.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi   +5 more
wiley   +1 more source

Do LGBTQIA+ Disabled Students Really Need Safe Spaces?

open access: yesEuropean Journal of Education, Volume 61, Issue 2, June 2026.
ABSTRACT Safe Spaces in educational settings seem to promote and ensure the emotional and psychological well‐being of all students. Specifically, classrooms that are LGBTQIA+ inclusive are considered refuges for these students. Recent research indicates that such spaces can significantly improve students' mental health and help them freely express ...
Konstantinos Drosos   +2 more
wiley   +1 more source

A planned program of study and guidance for parents of acoustically handicapped children [PDF]

open access: yes, 1957
Thesis (Ed.M.)--Boston ...
MacLean, Doris M., Rice, Vera R.
core  

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

Automated Creak Identifies Laryngeal Dystonia During Conversational Speech

open access: yesThe Laryngoscope, Volume 136, Issue 5, Page 2270-2277, May 2026.
This study evaluated whether automated creak distinguished speakers with adductor laryngeal dystonia (AdLD), muscle tension dysphonia (MTD), and those without voice disorders during conversational speech. Automated creak estimates were able to differentiate speakers with AdLD from MTD and controls with similar performance across different types of ...
Daria A. Dragicevic   +13 more
wiley   +1 more source

Accessibility of Tourism Space from a Geographical Perspective [PDF]

open access: yes, 2014
The accessibility of tourism space is becoming an increasingly significant issue in geographical research due to, amongst other things, demographic changes (an ageing population, growing numbers of people with disabilities) alongside guaranteeing a ...
Zajadacz, Alina
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Lasker Foundation: 2014 Annual Report [PDF]

open access: yes, 2015
Lasker Foundation 2014 Annual Report, highlighting this years achievements which include, the leadership of the Foundation, current scientific advances and the importance of sustained support for biomedical ...

core  

Congenital CMV and Hearing Loss—How Does it Happen and How to Prevent it

open access: yesReviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT Congenital cytomegalovirus (cCMV) is found worldwide and significantly contributes to permanent childhood hearing loss. CMV has been known to cause sensorineural hearing loss (SNHL) for more than half a century, and CMV‐related hearing loss has consistently been present in all childhood populations where infants with cCMV have been identified ...
Karen B. Fowler
wiley   +1 more source

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