Amsterdam Reproduction & Development
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S. & Hennekam, R. C., 2009, In: Nature Genetics. 41, 12, p. 1272-1274 3 p.Research output: Contribution to journal › Article › Academic › peer-review
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Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A-M., Posmyk, R., Battisti, C., Casertano, A., Melis, D., & 7 others , 2014, In: Nature Genetics. 46, 8, p. 815-817Research output: Contribution to journal › Article › Academic › peer-review
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Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
Hofman, N., Tan, H. L., Alders, M., Kolder, I., de Haij, S., Mannens, M. M. A. M., Lombardi, M. P., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521Research output: Contribution to journal › Article › Academic › peer-review
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DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 others , 18 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101050Research output: Contribution to journal › Article › Academic › peer-review
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Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
van der Laan, L., Hoekman, D. R., Wortelboer, E. J. & Mannens, M. M. A. M., Dec 2023, In: Molecular Cytogenetics. 16, 1, 34.Research output: Contribution to journal › Article › Academic › peer-review
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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
van der Laan, L., Rooney, K., Haghshenas, S., Silva, A., McConkey, H., Relator, R., Levy, M. A., Valenzuela, I., Trujillano, L., Lasa-Aranzasti, A., Campos, B., Castells, N., Verberne, E. A., Maas, S., Alders, M., Mannens, M. M. A. M., van Haelst, M. M., Sadikovic, B. & Henneman, P., 1 Sept 2023, In: International journal of molecular sciences. 24, 18, 14240.Research output: Contribution to journal › Article › Academic › peer-review
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