Results 91 to 100 of about 7,873 (297)
, 2013 Plus de 20 ans après la tenue du colloque du CTHS de Strasbourg / Haguenau sur la Dynamique du Bronze moyen en Europe occidentale, le colloque « Bronze 2014 » de l'APRAB se propose de réexaminer cette période chronologique à la lumière des travaux et ...
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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
Considerations on aegean bronze age fortifications
, 2019 The current paper summarizes the development of Bronze Age Aegean fortifications with a special focus on the Aegean Early and Middle Bronze Age. In order to get a better understanding of Aegean fortifications for each period, their numbers are set into ...
Gauß, Walter
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New radiocarbon dates for the Chalcolithic and Bronze Age at Drama, southeast Bulgaria
Studia PraehistoricaI discuss here radiocarbon dates from the sites of Drama–Merdzhumekya and Drama–Kayryaka that were obtained after 2011. The 14C dates from Merdzhumekya were measured on charred plant remains from cultural deposits in the structures 006A and 041, which ...
Ralf Gleser
doaj +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
, 2017 The pile-dwelling of Lavagnone (Desenzano del GardaLonato, Brescia) is a reference site for the absolute and relative chronology of the Bronze Age in northern Italy and for the cultural characterization of the “palafitte and terramare” civilisation ...
Amato A., Rapi M., Tecchiati U.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Semantics of images of funeral vessels from Rovantsi cemetery of the Final Bronze Age
Materials and studies on archaeology of Sub-Carpathian and Volhynian area, 2020 The study of the semantics of images on archaeological artifacts is a matter of great interest, because the content of ornamental compositions, ideograms, symbolic signs can be interpreted in the context of the sphere of contemporary religious doctrines. This also applies to the ornamentation of ceramic ware found in burials.
openaire +2 more sources
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source