Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.
Detecting hidden genetic defects by applying an existing method to an existing datasets. Researchers at Radboud university medical center have succeeded: they showed that the 'Expansion Hunter' method can detect errors in ...
Apr 15, 2021
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1.7米的电子健康记录的分析illion Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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Researchers at the National Institutes of Health have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation. Researchers ...
Apr 05, 2021
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A research team at the Greenwood Genetic Center (GGC) has identified the mechanism that causes movement disorders in patients with mutations in the NUS1 gene. Using both cellular and model organism studies, cholesterol accumulation ...
Mar 22, 2021
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For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population. This is ...
Mar 19, 2021
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Researchers from Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related ...
Mar 17, 2021
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The course and severity of COVID-19 in individual patients is largely influenced by the interaction between the SARS-CoV-2 coronavirus and the human immune system. Normally, the antiviral immune response of natural killer ...
Feb 22, 2021
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With the benefit of pooled resources, the NIH-supported Undiagnosed Diseases Network has demonstrated a novel approach to identifying and diagnosing mystery diseases compared to singular institutions working alone, according ...
Oct 27, 2020
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A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine. Down ...
Sep 08, 2020
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A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) further bridged the gap between genomic information and clinical outcome data by systematically ...
Aug 11, 2020
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