Results 191 to 200 of about 4,616 (263)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

Impactful Weather and Multi‐Hazard Events: Lived Experiences From Rural Scotland

open access: yesClimate Resilience and Sustainability, Volume 5, Issue 1, June 2026.
This study explores stakeholders’ experiences of impactful weather events and multi‐hazards—whose frequency and severity are evolving due to climate change—using surveys of 43 participants and 12 follow‐up interviews from respondents in rural Scotland as a case study.
Lou Brett   +2 more
wiley   +1 more source

Geological and geotechnical challenges on the Great Dyke of Zimbabwe and their impact on hardrock pillar design

open access: yesDeep Underground Science and Engineering, Volume 5, Issue 2, Page 506-538, June 2026.
The Great Dyke of Zimbabwe is notable for its rich platinum group metal deposits but poses significant geological and geotechnical challenges due to its complex rock types and structural features. Traditional pillar design methods are insufficient for addressing these complexities; the study suggests incorporating advanced techniques such as machine ...
Tawanda Zvarivadza   +3 more
wiley   +1 more source

Design and Optimization of Floor Layers in Carbon Fiber Composites for Body‐in‐White Materials

open access: yesEngineering Reports, Volume 8, Issue 6, June 2026.
The PSO‐BFO‐optimized partitioned carbon fiber mid‐floor achieves a 46.7% weight reduction and significantly improves the bending and torsional stiffness and modal performance of the body‐in‐white. ABSTRACT To improve the performance of the body‐in‐white (BIW) and achieve automotive lightweighting, a balanced approach across materials, techniques, and ...
Guang Zhu   +4 more
wiley   +1 more source

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