Results 161 to 170 of about 113,370 (286)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Roles and responsibilities in the secondary level eye care model

, 2005
In any secondary level eye care clinic, a number of tasks must be completed. In different countries and different settings, different people will carry out these tasks.
Saibaba Saravanan, Praveen Kumar Nirmalan, Bindiganavale Ramaswamy Shamanna   +2 more
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

A systemic review of barriers to accessing paediatric eye care services in African countries. [PDF]

Afr Health Sci, 2021
Alrasheed SH.
europepmc   +1 more source

Public willingness for accessing teleconsultation services for eye care

Indian Journal of Ophthalmology, 2021
Shivalika Sehgal, Bidisha Bhattacharya, Sourav Datta, Prem Nandhini Satgunam   +3 more
openaire   +3 more sources

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Integrating eye care into primary healthcare in Nigeria: Challenges of the primary healthcare workforce

Public Health Challenges
Visual impairment and blindness pose a significant and growing public health threat in Nigeria. Over 1.6 million Nigerians are visually impaired or blind, with more than 80% of these cases being preventable and treatable.
Bet‐ini Nsikak Christian, Deborah Oluwaseun Shomuyiwa, Nsikak Godwin Christian, Ntiense Raphael Umoette   +3 more
doaj   +1 more source

Understanding what patients think about eye care – and our services

, 2012
All health services must be acceptable to attract patients. If patients and their families do not like the services, or the way in which they are offered, they will not use them!
Sally Crook
core  

Piloting targeted glaucoma screening: experiences of eye care services in Ganjam district, Odisha state, India. [PDF]

Int Health, 2022
Buttan S, Gascoyne B, Das S, Schmidt E.
europepmc   +1 more source