Results 181 to 190 of about 221,089 (253)

Patient Preferences for the PRIMA Retinal Prosthesis for Vision Restoration for Dry Age-Related Macular Degeneration: An International Survey Study. [PDF]

Transl Vis Sci Technol
Muqit MMK, Villani GM, Dami M, Druchkiv V, Spampinato G, Cadoni S, Hornig R, Holz FG, Bittner AK.   +8 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Correction: Comparative evaluation of root canal morphology in mandibular first premolars with deep radicular grooves using direct vision, dental operating microscope, 2D radiographic visualisation and micro-computed tomography. [PDF]

PLoS One
Karobari MI, Ahmed HMA, Bin Khamis MF, Ibrahim N, Noorani TY.   +4 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Motion perception with visual prostheses. [PDF]

Prog Biomed Eng (Bristol)
Renshaw KT, Pezaris JS.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The ABCs of hearing and vision care in long-term care communities: a systematic review and behavioral systems map of Actors, Behaviors, and COM-B factors. [PDF]

Gerontologist
Anantharaman D, Meyer C, Nisar M, Kumaran S, Keay L, McAvoy S, Dawes P.   +6 more
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

On the development and potential influential aspects of prospective science teachers' competencies for the use of explainer videos for learning in physics education. [PDF]

Front Psychol
Hermann M, Wilhelm M, Brovelli D.
europepmc   +1 more source