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06/2010
Retinoblastoma is the prototype genetic cancer caused by mutations disrupting the RB1 tumor suppressor gene. Following loss of RB1, retinoblastoma acquires... 
MYCN | Genetics | Retinoblastoma | aCGH
Dissertation
Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, pp. e45 - e46
Journal Article
Reproductive BioMedicine Online, ISSN 1472-6483, 04/2019, Volume 38, pp. e58 - e58
PGS | aCGH | NGS
Journal Article
Seizure, ISSN 1059-1311, 01/2018, Volume 54, pp. 41 - 44
Purpose GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1... 
GLUT1-DS | SLC2A1 mutations | aCGH analysis
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 05/2019, Volume 41, Issue 5, pp. 708 - 708
Journal Article
Biotechnology & Biotechnological Equipment, ISSN 1310-2818, 01/2019, Volume 33, Issue 1, pp. 1663 - 1670
Preimplantation genetic testing (PGT) is presently the only option available for detecting genetic conditions in embryos created through in vitro fertilization... 
translocations | PGT | complex chromosomal rearrangements | aCGH
Journal Article
Clinical and Experimental Obstetrics and Gynecology, ISSN 0390-6663, 2018, Volume 45, Issue 5, pp. 797 - 799
Journal Article
Current Genomics, ISSN 1389-2029, 2018, Volume 19, Issue 6, pp. 499 - 504
Journal Article
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 6/2010, Volume 16, Issue 11, pp. 2971 - 2978
Journal Article
Leukemia and Lymphoma, ISSN 1042-8194, 08/2011, Volume 52, Issue 8, pp. 1567 - 1573
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2011, Volume 13, Issue 7, pp. 680 - 685
Journal Article
British Journal of Haematology, ISSN 0007-1048, 02/2016, Volume 172, Issue 3, pp. 428 - 438
Journal Article
Pediatrics, ISSN 0031-4005, 04/2010, Volume 125, Issue 4, pp. e727 - e735
Journal Article
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