Results 201 to 210 of about 210,419 (270)

Bifaciality Optimization of TBC Silicon Solar Cells Based on Quokka3 Simulation. [PDF]

open access: yesMaterials (Basel)
Yang F   +8 more
europepmc   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera   +15 more
wiley   +1 more source

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, EarlyView.
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

Endogenous Repair in Vanishing White Matter

open access: yesAnnals of Neurology, EarlyView.
Objective Vanishing white matter is a leukodystrophy with remarkable regional variation in disease severity. The cerebral and cerebellar white matter chronically degenerates, while stress‐induced episodes of rapid neurological deterioration coincide with the appearance of acute focal lesions in the deep gray structures and brainstem.
Bonnie C. Plug   +7 more
wiley   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

open access: yesAnnals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles   +7 more
wiley   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

open access: yesAnnals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang   +7 more
wiley   +1 more source

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