Results 21 to 30 of about 39,057 (248)
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire +2 more sources
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Ilex pedunculosa Longstalk Holly
This document provides an overview of the longstalk holly (Ilex pedunculosa), a broadleaf evergreen native to China, Japan, and Korea. It describes the plant’s characteristics, including its moderately dense habit, smooth undulating leaves, and small ...
Edward Gilman
doaj +5 more sources
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire +1 more source
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Ilex spp. (holly) are widely planted ornamental evergreen shrubs which perform both an aesthetic and an ecological function in gardens. In Edinburgh, I.
Matt Elliot, Amanda Jones
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Phytophthora ilicis as a leaf and stem pathogen of Ilex aquifolium in Mediterranean islands
Between 2010 and 2013 several English holly trees showing defoliation, leaf and twig blight were found in natural ecosystems in Sardinia and Corsica. A Phytophthora species was consistently isolated from necrotic tissues of leaves and twigs, and bleeding
Bruno SCANU +4 more
doaj +1 more source
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
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Diffusion MRI and α‐Synuclein Seed Amplification Status in Parkinson's Disease
Objective Positive α‐synuclein seed amplification assay (SAA) is a biomarker found in most people with Parkinson's disease (PD). We explored if free‐water (FW) imaging detects microstructural differences in the brains of patients with early PD with SAA+ or SAA– status.
Shannon Y. Chiu +145 more
wiley +1 more source

