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Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1769, pp. 21 - 33
Chromothripsis was initially described as a novel cause of chromosomal rearrangements in cancer cells and was subsequently implicated in the development of... 
Duplication | Gene | Deletion | Congenital anomaly | Tumor | Germline | Rearrangement | Genetic Predisposition to Disease | Genetic Association Studies | Neoplasms - genetics | Gene Rearrangement | Humans | Chromosome Aberrations | Germ-Line Mutation | Germ Cells - metabolism | Neoplasms - pathology | Germ Cells - pathology | Chromothripsis
Journal Article
Japanese Journal of Thrombosis and Hemostasis, ISSN 0915-7441, 2017, Volume 28, Issue 1, pp. 9 - 15
Journal Article
Journal of Medical Virology, ISSN 0146-6615, 10/2018, Volume 90, Issue 10, pp. i - i
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2007, Volume 104, Issue 48, pp. 19034 - 19039
Journal Article
Journal of Medical Virology, ISSN 0146-6615, 10/2018, Volume 90, Issue 10, pp. 1636 - 1642
Journal Article
Genes & Genetic Systems, ISSN 1341-7568, 2012, Volume 87, Issue 6, pp. 394 - 394
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 127 - 131
Journal Article
Brain and Development, ISSN 0387-7604, 03/2019, Volume 41, Issue 3, pp. 280 - 284
Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the... 
Pyrimidine metabolism | Screening | 5-Fluorouracil | DPYS gene | DIAGNOSIS | CLINICAL NEUROLOGY | Medical colleges | Pyrimidines | Nervous system diseases | Genetic disorders | Molecular genetics | Metabolites | Analysis | Liquid chromatography | Mass spectrometry | Genetic screening
Journal Article
Journal Article