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Reijnders, M R F, Kousi, M, van Woerden, G M, Klein, M, Bralten, J, Mancini, G M S, van Essen, T, Proietti-Onori, M, Smeets, E E J, van Gastel, M, Stegmann, A P A, Stevens, S J C, Lelieveld, S H, Gilissen, C, Pfundt, R, Tan, P L, Kleefstra, T, Franke, B, Elgersma, Y, Katsanis, N, Brunner, H G
Published in Nature communications (20.10.2017)
Published in Nature communications (20.10.2017)
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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.
Published in Clinical genetics (01.09.2015)
Published in Clinical genetics (01.09.2015)
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O-153 Clinical utility of preimplantation genetic testing for aneuploidy origin (PGT-AO) to enhance embryo selection for monogenic disorders: a retrospective pan-country integrative genomic and clinical study
Essers, R, Biglari, S, Janssen, A, Stevens, S J C, Dreesen, J, Van Buul-van Zwet, M L, Pieters, M H E, Van Zomeren, K, Van Echten-Arends, J, Derijck, A, Mastenbroek, S, Van den Wijngaard, A, Coonen, E, Paulussen, A, Zamani Esteki, M
Published in Human reproduction (Oxford) (03.07.2024)
Published in Human reproduction (Oxford) (03.07.2024)
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P–381 Deciphering the genetic cause of recurrent and sporadic pregnancy loss
Essers, R, Acharya, G, Al-Nasiry, S, Brunner, H, Deligiannis, S P, Fonova, E A, Kurg, A, Lebedev, I N, Macville, M V E, Nikitina, T V, Salumets, A, Sazhenova, E A, Stevens, S J C, Tolmacheva, E N, Zaman. Esteki, M
Published in Human reproduction (Oxford) (06.08.2021)
Published in Human reproduction (Oxford) (06.08.2021)
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Session 42: Preimplantation Genetic Diagnosis
Uum van, C. M. J., Stevens, S. J. C., Dreesen, J. C. F. M., Drusedau, M., Smeets, H. J. M., Hollander-Crombach, H. T. M., Geraedts, J. P. M., Engelen, J. J. M., Coonen, E., Ling, J., Long, X., Liu, J., Zhuang, G., Cao, B., Xu, K., Mir, P., Rodrigo, L., Cervero, A., Mercader, A., Delgado, A., Buendia, P., Pellicer, A., Rubio, C., Martin, J., Garcia-Quevedo, L., Blanco, J., Sarrate, Z., Bassas, L., Vidal, F., Labarta, E., Bosch, E., Alama, P., Remohi, J.
Published in Human reproduction (Oxford) (01.06.2010)
Published in Human reproduction (Oxford) (01.06.2010)
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Monitoring of Epstein-Barr Virus DNA Load in Peripheral Blood by Quantitative Competitive PCR
STEVENS, S. J. C, VERVOORT, M. B. H. J, VAN DEN BRULE, A. J. C, MEENHORST, P. L, MEIJER, C. J. L. M, MIDDELDORP, J. M
Published in Journal of Clinical Microbiology (01.09.1999)
Published in Journal of Clinical Microbiology (01.09.1999)
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Molecular Fine-Specificity Analysis of Antibody Responses to Human Cytomegalovirus and Design of Novel Synthetic-Peptide-Based Serodiagnostic Assays
GREIJER, A. E, VAN DE CROMMERT, J. M. G, STEVENS, S. J. C, MIDDELDORP, J. M
Published in Journal of Clinical Microbiology (01.01.1999)
Published in Journal of Clinical Microbiology (01.01.1999)
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