Results 191 to 200 of about 42,303 (288)

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad   +13 more
wiley   +1 more source

NLRP3 inflammasome blockade treats intestinal inflammation associated with chronic granulomatous disease.

open access: yesBlood
Darbinian E   +8 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Editorial: Dietary pattern and metabolic syndrome

open access: yesFrontiers in Nutrition
Shaojie Liu, Yingnan Jia, Mengyun Luo
doaj   +1 more source

An international consensus on screening and monitoring early‐stage type 1 diabetes: A roadmap to European implementation

open access: yesDiabetes, Obesity and Metabolism, Volume 28, Issue 5, Page 3535-3556, May 2026.
Abstract Type 1 diabetes (T1D) is a chronic autoimmune disease that results in loss of insulin‐secreting pancreatic β‐cells in the islets of Langerhans. A diagnosis of T1D is typically associated with children and adolescents, yet half of all diagnoses of T1D are made in adults.
Sufyan Hussain   +16 more
wiley   +1 more source

Editorial: Ketogenic metabolic therapy as a treatment for mental health disorders

open access: yesFrontiers in Nutrition
Georgia Ede   +2 more
doaj   +1 more source

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