Disease Models & Mechanisms, 2019 Schimke immuno-osseous dysplasia is an autosomal recessive genetic osteochondrodysplasia characterized by dysmorphism, spondyloepiphyseal dysplasia, nephrotic syndrome and frequently T cell immunodeficiency.
Giusj Monia Pugliese +7 more
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Monitoring and analysis of seismic data during the 2018 sunda strait tsunami [PDF]
E3S Web of Conferences, 2021 The tsunami of Sunda Strait occurred on December 22, 2018, at 21:03 West Indonesia Time (zone). An eruption of Mount Anak Krakatau caused an eruption that triggered a landslide on the slopes of Mount Anak Krakatau covering an area of 64 hectares that hit
Kurniawan Wahyu +4 more
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Numerical investigation on the effect of blunt body deflector on darieus turbine performance [PDF]
E3S Web of ConferencesOne of the renewable energy source that is abundant but has not been used optimally is wind energy. Roads are currently the main transportation infrastructure along with the increasing number of motorized vehicles.
Rofi’i Ahmad Syafiq +5 more
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Hybrid integrated platform of PDMS microfluidics and silica capillary for effective CE and ESI-MS coupling [PDF]
, 2009 We present an effective hybrid integration of PDMS microfluidic devices and fused silica capillaries. These hybrid microfluidic integrated PDMS and silica capillary (iPSC) modules exhibit a novel architecture and method for leakage free CE sample ...
Dimov, Ivan Krastev +3 more
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Development of an Arrhythmogenic Cardiomyopathy Model Using CRISPR-Cas9 and Homology-Directed Repair
Український журнал серцево-судинної хірургіїArrhythmogenic cardiomyopathy (ACM) frequently results from loss-of-function variants in PKP2, leading to desmosomal failure, electrical instability, and fibrofatty remodeling.
Svetlana M. Gramatiuk +5 more
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Stem Cell Research & Therapy, 2018 Background Skin is an organ that plays an important role as a physical barrier and has many other complex functions. Skin mimetics may be useful for studying the pathophysiology of diseases in vitro and for repairing lesions in vivo.
Yena Kim +6 more
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Are Panel Unit Root Tests Useful for Real-Time Data? [PDF]
, 2010 With the development of real-time databases, N vintages are available for T observations instead of a single realization of the time series process. Although the use of panel unit root tests with the aim to gain in efficiency seems obvious, empirical and
Augustijn-Beckers, Petronella +5 more
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Endothelial cells derived from patients' induced pluripotent stem cells for sustained factor VIII delivery and the treatment of hemophilia A. [PDF]
, 2020 Hemophilia A (HA) is a bleeding disorder characterized by spontaneous and prolonged hemorrhage. The disease is caused by mutations in the coagulation factor 8 gene (F8) leading to factor VIII (FVIII) deficiency.
Agu, Emmanuel +9 more
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, 2023 Differentiation is the process where an unspecialized cell acquires cellular traits that allow it to perform specialized functions. Indeed, the actual potential of iPSCs rest in their direct differentiation to various types of somatic cells. In order to use iPSCs to treat disease or as research tools to study diseases, fully functioning specialized ...
openaire +2 more sources
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome [PDF]
, 2018 Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene,
Altieri, Filomena +12 more
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