Specialization
Clinical Molecular Genetics
Amsterdam Reproduction & Development
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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
Mackay, D. J. G., Bliek, J., Lombardi, M. P., Russo, S., Calzari, L., Guzzetti, S., Izzi, C., Selicorni, A., Melis, D., Temple, K., Maher, E., Brioude, F., Netchine, I. & Eggermann, T., Mar 2019, In: Genetical research. 101, p. 3Research output: Contribution to journal › Article* › Academic › peer-review
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Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients
Severino-Freire, M., Maza, A., Lombardi, M. P., Tournier, E., Chassaing, N. & Mazereeuw-Hautier, J., 2017, In: Acta dermato-venereologica. 97, 7, p. 853-854Research output: Contribution to journal › Editorial* › Academic › peer-review
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Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature
Mary, L., Scheidecker, S., Kohler, M., Lombardi, M.-P., Delezoide, A.-L., Auberger, E., Triau, S., Colin, E., Gerard, M., Grzeschik, K.-H., Dollfus, H. & Antal, M. C., 2017, In: American journal of medical genetics. Part A. 173A, 2, p. 479-486Research output: Contribution to journal › Article* › Academic › peer-review
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