Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification von Srebniak, Malgorzata I, Diderich, Karin E M, Govaerts, Lutgarde C P, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane

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Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype von Van Opstal, Diane, Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.

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Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans von Srinivasan, Supriya, Lubrano-Berthelier, Cecile, Govaerts, Cedric, Picard, Franck, Santiago, Pamela, Conklin, Bruce R, Vaisse, Christian

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Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype von Ester, Wietske A., van Duyvenvoorde, Hermine A., de Wit, Caroline C., Broekman, Alexander J., Ruivenkamp, Claudia A. L., Govaerts, Lutgarde C. P., Wit, Jan M., Hokken-Koelega, Anita C. S., Losekoot, Monique

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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences von van der Steen, S. L., Riedijk, S. R., Verhagen-Visser, J., Govaerts, L. C. P., Srebniak, M. I., Van Opstal, D., Joosten, M., Knapen, M. F. C. M., Tibben, A., Diderich, K. E. M., Galjaard, R. J. H.

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Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? von Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, Veen, Stefanie, Helm, Robert, Go, Attie T.J.I., Knapen, Maarten F.C.M., Papatsonis, Dimitri N.M., Dijkman, Anneke, Vries, Femke, Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Srebniak, Malgorzata I.

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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review von Van Opstal, Diane, Srebniak, Malgorzata I, Polak, Joke, de Vries, Femke, Govaerts, Lutgarde C P, Joosten, Marieke, Go, Attie T J I, Knapen, Maarten F C M, van den Berg, Cardi, Diderich, Karin E M, Galjaard, Robert-Jan H

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Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature von de wit, M. C., Srebniak, M. I., Govaerts, L. C. P., Van Opstal, D., Galjaard, R. J. H., Go, A. T. J. I.

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Isolation and Partial Characterization of Antagonistic Peptides Produced by Paenibacillus sp. Strain B2 Isolated from the Sorghum Mycorrhizosphere von Selim, S, Negrel, J, Govaerts, C, Gianinazzi, S, Tuinen, D. van

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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT von Srebniak, Malgorzata I, de Wit, Merel C, Diderich, Karin E M, Govaerts, Lutgarde C P, Joosten, Marieke, Knapen, Maarten F C M, Bos, Marnix J, Looye-Bruinsma, Gerda A G, Koningen, Mieke, Go, Attie T J I, Galjaard, Robert Jan H, Van Opstal, Diane

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Omphalocele: comparison of outcome following prenatal or postnatal diagnosis von Cohen‐Overbeek, T. E., Tong, W. H., Hatzmann, T. R., Wilms, J. F., Govaerts, L. C. P., Galjaard, R. J. H., Steegers, E. A. P., Hop, W. C. J., Wladimiroff, J. W., Tibboel, D.

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Social and medical need for whole genome high resolution NIPT von Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies von Klapwijk, Jasmijn E., Srebniak, Malgorzata I., Go, Attie T. J. I., Govaerts, Lutgarde C. P., Lewis, Celine, Hammond, Jennifer, Hill, Melissa, Lou, Stina, Vogel, Ida, Ormond, Kelly E., Diderich, Karin E. M., Brüggenwirth, Hennie T., Riedijk, Sam R.

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Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin von Grijseels, E. W. M., van-Hornstra, PTM Echteld, Govaerts, L. C. P., Cohen-Overbeek, T. E., de Krijger, R. R., Smit, B. J., Cransberg, K.

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Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testi... von Donze, Stephany H, Srebniak, Malgorzata I, Diderich, Karin E M, van den Born, Myrthe, Galjaard, Robert-Jan, Govaerts, Lutgarde C P, van der Schoot, Vyne, Knapen, Maarten F C M, Joosten, Marieke, Van Opstal, Diane

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Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function von Govaerts, Cedric, Srinivasan, Supriya, Shapiro, Astrid, Zhang, Sumei, Picard, Franck, Clement, Karine, Lubrano-Berthelier, Cecile, Vaisse, Christian

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Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing von van der Steen, S.L., Diderich, K.E.M., Riedijk, S.R., Verhagen-Visser, J., Govaerts, L.C.P., Joosten, M., Knapen, M.F.C.M., Van Opstal, D., Srebniak, M.I., Tibben, A., Galjaard, R.J.H.

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Molecular Genetics of Human Obesity-Associated MC4R Mutations von LUBRANO-BERTHELIER, CECILE, CAVAZOS, MARTHA, DUBERN, BEATRICE, SHAPIRO, ASTRID, LE STUNFF, CATHERINE, ZHANG, SUMEI, PICART, FRANCK, GOVAERTS, CEDRIC, FROGUEL, PHILIPPE, BOUGNÈRES, PIERRE, CLEMENT, KARINE, VAISSE, CHRISTIAN

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294 An F508del-stabilizing nanobody enhances rescue of CFTR function in cystic fibrosis bronchial epithelial cells treated with elexacaftor/tezacaftor/ivacaftor von Rubil, T., Overtus, M., Balázs, A., Mall, M., Govaerts, C.

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Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks von de Wit, M. C., Srebniak, M. I., Joosten, M., Govaerts, L. C. P., Kornelisse, R. F., Papatsonis, D. N. M., de Graaff, K., Knapen, M. F. C. M., Bruggenwirth, H. T., de Vries, F. A. T., Van Veen, S., Van Opstal, D., Galjaard, R. J. H., Go, A. T. J. I.

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