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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Parijs I, Brison N, Vancoillie L, Baetens M, Blaumeiser B, Boulanger S, Désir J, Dimitrov B, Fieremans N, Janssens K, Janssens S, Marichal A, Menten B, Meunier C, Van Berkel K, Van Den Bogaert A, Devriendt K, Van Den Bogaert K, Vermeesch JR. Parijs I, et al. Among authors: van berkel k. Eur J Hum Genet. 2024 Jan;32(1):31-36. doi: 10.1038/s41431-023-01336-6. Epub 2023 Apr 7. Eur J Hum Genet. 2024. PMID: 37029316
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, De Coninck C, Derisbourg S, Gajewska K, Garofalo G, Gounongbe C, Guizani M, Holoye A, Houba C, Makhoul J, Norgaard C, Regnard C, Romée S, Soto J, Stagel-Trabbia A, Van Rysselberge M, Vercoutere A, Zaytouni S, Bouri S, D'Haene N, D'Onle D, Dugauquier C, Racu ML, Rocq L, Segers V, Verocq C, Avni EF, Cassart M, Massez A, Blaumeiser B, Brischoux-Boucher E, Bulk S, De Ravel T, Debray G, Dimitrov B, Janssens S, Keymolen K, Laterre M, van Berkel K, Van Maldergem L, Vandernoot I, Vilain C, Donner C, Tecco L, Thomas D, Désir J, Abramowicz M, Migeotte I. Marangoni M, et al. Among authors: van berkel k. Genet Med. 2022 Feb;24(2):344-363. doi: 10.1016/j.gim.2021.09.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906519 Free article.
Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.
Brock S, Michotte A, Doné E, Leus A, Cannie M, De Pierre K, Forsyth R, Stouffs K, Keymolen K, Dimitrov B, Fieuw A, Jansen AC, Van Berkel K. Brock S, et al. Among authors: van berkel k. J Neuropathol Exp Neurol. 2021 Sep 10;80(8):807-810. doi: 10.1093/jnen/nlab026. J Neuropathol Exp Neurol. 2021. PMID: 33846711 No abstract available.
18 results