Associated Papers
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
Henarejos-Castillo I et al.
Journal of Personalized Medicine, 2021
34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 2021
33951346 (PubMed )
Supplement: MGG3-9-e1689-s001.xls › Suppl._Table_4
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M et al.
Nature Genetics, 1999
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