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Results 171 to 180 of about 26,043 (246)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source

Advancing hypoparathyroidism treatment: FDA approval of Palopegteriparatide as a promising orphan drug. [PDF]

Ann Med Surg (Lond)
Shahid SR +4 more
europepmc +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales +6 more
wiley +1 more source

New Therapeutic Potential of Potassium-Competitive Acid Blockers in the Management of Refractory Gastroesophageal Reflux Disease. [PDF]

Korean J Helicobacter Up Gastrointest Res
Ryu DG, Choi CW.
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

Anabolic medications for rehabilitation after hip fracture in older people. [PDF]

Cochrane Database Syst Rev
Deacon C +5 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

Supporting medical physics resident development through mentored journal peer review experiences. [PDF]

J Appl Clin Med Phys
Fagerstrom JM.
europepmc +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley +1 more source

Adverse Prognostic Impact of Pretransplant Serum Ferritin and Hepcidin on Survival Outcomes After Allogeneic Hematopoietic Stem Cell Transplantation

American Journal of Hematology, EarlyView.
Michelle Pirotte +6 more
wiley +1 more source

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