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Page 1
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G, Achilleos A, Nicolaou M, Loizides C, Tsangaras K, Kypri E, Mina P, Sismani C, Velissariou V, Christopoulou G, Constantoulakis P, Manolakos E, Papoulidis I, Stambouli D, Ioannides M, Patsalis P. Koumbaris G, et al. Among authors: stambouli d. Mol Cytogenet. 2019 Nov 21;12:48. doi: 10.1186/s13039-019-0459-8. eCollection 2019. Mol Cytogenet. 2019. PMID: 31832098 Free PMC article.
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.
Gurban P, Mambet C, Botezatu A, Necula LG, Neagu AI, Matei L, Pitica IM, Nedeianu S, Chivu-Economescu M, Bleotu C, Ataman M, Mocanu G, Saguna C, Pavel AG, Stambouli D, Sepulchre E, Anton G, Diaconu CC, Constantinescu SN. Gurban P, et al. Among authors: stambouli d. Front Oncol. 2023 Sep 29;13:1266996. doi: 10.3389/fonc.2023.1266996. eCollection 2023. Front Oncol. 2023. PMID: 37841434 Free PMC article.
Monitoring Methylmalonic Aciduria by NMR Urinomics.
Nicolescu A, Blanita D, Boiciuc C, Hlistun V, Cristea M, Rotaru D, Pinzari L, Oglinda A, Stamati A, Tarcomnicu I, Tutulan-Cunita A, Stambouli D, Gladun S, Revenco N, Uşurelu N, Deleanu C. Nicolescu A, et al. Among authors: stambouli d. Molecules. 2020 Nov 14;25(22):5312. doi: 10.3390/molecules25225312. Molecules. 2020. PMID: 33202577 Free PMC article.
De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review.
Gug C, Stoicanescu D, Mozos I, Nussbaum L, Cevei M, Stambouli D, Pavel AG, Doros G. Gug C, et al. Among authors: stambouli d. Front Pediatr. 2020 Jul 8;8:375. doi: 10.3389/fped.2020.00375. eCollection 2020. Front Pediatr. 2020. PMID: 32733829 Free PMC article.
12 results