Molecular genetics & genomic medicine, 2324-9269

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Related Publications
  1. Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome

    Lo Faro, V., Siddiqui, S. N., Khan, M., Villanueva-Mendoza, C., Cortes-Gonzalez, V., Jansonius, N., Bergen, A. A. B. & Micheal, S., Jul-2020, In : Molecular genetics & genomic medicine. 8, 7, 9 p., 1215.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Modifier genes in SCN1A-related epilepsy syndromes

    de Lange, I. M., Mulder, F., van 't Slot, R., Sonsma, A. C. M., van Kempen, M. J. A., Nijman, I. J., Ernst, R. F., Knoers, N. V. A. M., Brilstra, E. H. & Koeleman, B. P. C., Apr-2020, In : Molecular genetics & genomic medicine. 8, 4, 16 p., 1103.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

    Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Vy Nguyen, Setthavongsack, N., Garcia, D., Krajbich, V., Thao Pham, Woltjer, R., George, B. P., Minks, K. Q., Paciorkowski, A. R., Hogarth, P., Jankovic, J. & Hayflick, S. J., Jul-2019, In : Molecular genetics & genomic medicine. 7, 7, 11 p., 736.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes

    de Lange, I. M., Weuring, W., van 't Slot, R., Gunning, B., Sonsma, A. C. M., McCormack, M., de Kovel, C., van Gemert, L. J. J. M., Mulder, F., van Kempen, M. J. A., Knoers, N. V. A. M., Brilstra, E. H. & Koeleman, B. P. C., Jul-2019, In : Molecular genetics & genomic medicine. 7, 7, 11 p., e00727.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report

    Ross, J., Fennis, W., de Leeuw, N., Cune, M., Willemze, A., Rosenberg, A., Ploos van Amstel, H-K., Créton, M. & van den Boogaard, M-J., Jun-2019, In : Molecular genetics & genomic medicine. 7, 6, 6 p., e679.

    Research output: Contribution to journalArticleAcademicpeer-review

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