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Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source

Pregnancy outcomes in people with spinal cord injury: A cross-sectional study. [PDF]

Obstet Med
Berndl A, Condran G, Mazzia C, Harris A.
europepmc +1 more source

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

Factors influencing front line treatment of chronic lymphocytic leukemia: A French real-world study. [PDF]

Cancer
Coste A +25 more
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

Abstract: Use of Negative Pressure Wound Therapy with Instillation in Acute Post-Surgical Breast Reconstruction Infections—Retrospective Review

Plastic and Reconstructive Surgery, Global Open, 2017
Devinder Singh, MD +3 more
doaj +1 more source

Cosmic ray-driven electron-induced reaction theory does not quantify spatiotemporal variations in lower-stratospheric ozone and temperature. [PDF]

Proc Natl Acad Sci U S A
Godin-Beekmann S +9 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

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake +2 more
wiley +1 more source

Corrigendum to "In ovo probiotic supplementation enhances energy status and promotes growth in developing broiler embryos and hatchlings" [Poultry Science, Volume 104, Issue 9, September 2025, 105442]. [PDF]

Poult Sci
Gao M, Ren Y, Amalaradjou MA.
europepmc +1 more source

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