Results 171 to 180 of about 128,937 (352)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Impact of Cataract on Color Vision and Contrast Sensitivity: A Clinical Review. [PDF]

Cureus
Alghamdi MA.
europepmc   +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

Clinical Performance After Implantation of a New Purely Refractive Extended Depth of Field Intraocular Lens in Cataract Patients. [PDF]

Clin Ophthalmol
Auffarth GU, Negoescu AT, Kremser F, Chychko L, Vogormian L, Khoramnia R, Yildirim TM.   +6 more
europepmc   +1 more source

Confessions of a Poverty Researcher: My Journey Through the Foothills of Scholarship

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper describes the key events, experiences and ideas that influenced the author's career as a poverty researcher. He describes how his early disillusion with economics was replaced by a spark of interest in social issues and how his migration from the UK to Australia in the mid‐1970s provided the impetus to begin what became a lifetime ...
Peter Saunders
wiley   +1 more source

Multi-Site Study of Patient Reported Vision Quality and Dry Eye Following LASIK. [PDF]

Clin Ophthalmol
Lobanoff MC, Mann Ii PM, Parikh M, Brenner J, Hall B.   +4 more
europepmc   +1 more source

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

Australian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

Bilateral implantation of liberty trifocal and trifocal toric intraocular lens. [PDF]

BMC Ophthalmol
Cosar CB, Sipahier A, Akçay L, Ozpolat HT.   +3 more
europepmc   +1 more source

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

Are you always working in the dark? The impact of limited daylight exposure on radiologists' health. [PDF]

Insights Imaging
Landsmann A, Rovetto C, Knöpfli F, Kubik-Huch RA.   +3 more
europepmc   +1 more source