American Journal of Medical Genetics Part A, EarlyView.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
L’agglomération protohistorique de Chens-sur-Léman. Un modèle d’habitat inédit
Archéopages, 2015 Archaeological excavations carried out between 2009 and 2012 at Chens-sur-Léman (Haute-Savoie) have allowed us to revisit our concepts of Bronze Age settlements.
Sylvie Cousseran-Néré, Éric Néré
doaj +1 more source
Emergence of monopoly-Copper exchange networks during the Late Bronze Age in the western and central Balkans. [PDF]
PLoS One, 2022 Gavranović M +8 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
A Late Bronze Age Collar from Somló Hill
Communicationes Archaeologicae HungariaeAn assemblage of over 5800 metal artefacts was discovered on Somló Hill during an archaeological metal detector survey in 2024. Preliminary typo-chronological examinations suggest that the new hoard most plausibly dates to the second half of the Ha B ...
János Gábor Tarbay +3 more
doaj +1 more source
Extensive archaeobotanical data estimate carrying capacity, duration, and land use of the Late Bronze Age settlement site Březnice (Czech Republic). [PDF]
Sci Rep, 2022 Šálková T +8 more
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
A peculiar Late Bronze Age find from Sopron-Warischberg
Dissertationes Archaeologicae: Ex Instituto Archaeologico Universitatis de Rolando Eötvös NominataeThe scarcity of Late Bronze Age finds in the mountains surrounding Sopron is a widely held topos among archaeologists. The Sopron Museum initiated a scientific programme to investigate settlement patterns during this period, concentrating on upland and ...
Attila Mrenka
doaj +1 more source
Analysis of 3800-year-old Yersinia pestis genomes suggests Bronze Age origin for bubonic plague
Nature Communications, 2018 Yersinia pestis has caused infections (plague) in humans since the Early Bronze Age (5000 years ago). Here, Spyrou et al. reconstruct Y. pestis genomes from Late Bronze Age individuals, and find genomic evidence compatible with flea-mediated transmission
Maria A. Spyrou +11 more
doaj +1 more source
Combining geophysical prospection and core drilling: Reconstruction of a Late Bronze Age copper mine at Prigglitz-Gasteil in the Eastern Alps (Austria). [PDF]
Archaeol Prospect, 2022 Trebsche P +2 more
europepmc +1 more source