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Page 1
Subtelomeric chromosome aberrations: still a lot to learn.
Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Among authors: van lent albrechts jc. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207
Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype.
Marcus-Soekarman D, Hamers G, Mulder AL, Offermans J, Offermans J, Engelen J, van Lent-Albrechts JC, Robben SG, de Muinck Keizer-Schrama S, Wolffenbuttel KP, Looijenga LH, Oosterhuis JW, Schrander-Stumpel C, Nijhuis J. Marcus-Soekarman D, et al. Among authors: van lent albrechts jc. Prenat Diagn. 2005 Apr;25(4):279-82. doi: 10.1002/pd.996. Prenat Diagn. 2005. PMID: 15849784
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I. Faas BHW, et al. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814