Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Authors (first, second and last of 7)
Volume 21, supplement issue 1, October 2020
Selected Topics in “Systems Biology and Bioinformatics” - 2019: genetics
7 articles in this issue
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Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences
Authors (first, second and last of 4)
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Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas
Authors (first, second and last of 7)
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Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients
Authors (first, second and last of 8)
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Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders
Authors (first, second and last of 9)
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
Authors (first, second and last of 10)
