Results 171 to 180 of about 275,736 (271)

Estimating Organism Abundance Using Within-Sample Haplotype Frequencies of eDNA Data. [PDF]

open access: yesMol Ecol Resour
Brandão-Dias PFP   +4 more
europepmc   +1 more source

Tubulointerstitial nephritis and uveitis syndrome in children: What to keep an eye on

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose The purpose of this study was to determine the disease course in patients with tubulointerstitial nephritis and uveitis (TINU) syndrome, focusing on long‐term outcome and the incidence of complications such as chronic kidney disease (CKD).
Jytte Hendrikse   +4 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic   +10 more
wiley   +1 more source

Tau‐targeting active immunotherapy slows progression and reduces pathology in mouse models of tauopathy

open access: yesBrain Pathology, EarlyView.
The efficacy of the novel anti‐tau active immunotherapy, p5555kb, was tested using two mouse models of tau pathology. p5555kb inoculation increased the survival rate and reduced tau pathology in tau‐overexpressing P301L mice and decreased tau seeding in the brains of C57BL/6 mice injected with human‐purified Alzheimer's disease tau.
Christopher M. Brown   +7 more
wiley   +1 more source

Assembly of a pangenome uncovers novel non-reference unique insertion sequences in cattle highlighting their genetic diversity. [PDF]

open access: yesJ Anim Sci Biotechnol
Sorin V   +17 more
europepmc   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

open access: yesClinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin   +2 more
wiley   +1 more source

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