Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
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DOI: 10.1002/mgg3.2399
Abstract: Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation, liver fibrosis,… read more here.
Keywords: nephronophthisis; clinical report; report genetic; premature infant ... See more keywords
Brief Report: Genetic Links Between Autism and Suicidal Behavior—A Preliminary Investigation
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DOI: 10.1007/s10803-020-04419-1
Abstract: Evidence suggests there may be increased risk for suicidal behavior among individuals with autism spectrum disorder (ASD). An emerging body of research explores social factors that may contribute to increased risk, however little is known… read more here.
Keywords: report genetic; autism; brief report; suicidal behavior ... See more keywords
First report and genetic diversity of porcine bufavirus in China
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DOI: 10.1186/s12985-019-1278-6
Abstract: BackgroundBufavirus is a newly discovered zoonotic virus reported in numerous mammals and humans. However, the epidemiological and genetic characteristics of porcine bufaviruses (PBuVs) in China remain unclear.MethodsTo detect PBuVs in China, 384 samples (92 fecal… read more here.
Keywords: report genetic; genetic diversity; china; chinese pbuvs ... See more keywords