Genetics in Medicine, 1098-3600

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  1. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    Sanchez, E., Laplace-Builhe, B., Mau-Them, F. T., Richard, E., Goldenberg, A., Toler, T. L., Guignard, T., Gatinois, V., Vincent, M., Blanchet, C., Boland, A., Bihoreau, M. T., Deleuze, J-F., Olaso, R., Nephi, W., Luedecke, H-J., Verheij, J. B. G. M., Moreau-Lenoir, F., Denoyelle, F., Riviere, J-B., Laplanche, J-L., Willing, M., Captier, G., Apparailly, F., Wieczorek, D., Collet, C., Djouad, F. & Genevieve, D., Mar-2020, In : Genetics in Medicine. 22, 3, p. 547-556 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

    Nantes Referral Ctr Inherited Car, 7-Sep-2020, In : Genetics in Medicine. 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

    Lenz, D., Smith, D. E. C., Crushell, E., Husain, R. A., Salomons, G. S., Alhaddad, B., Bernstein, J. A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T. B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Kuery, S., Lainka, E., Laugwitz, L., Lupski, J. R., Posey, J. E., Reynolds, C., Rosenfeld, J. A., Schroeter, J., Vansenne, F., Wagner, M., Weiss, C., Wolffenbuttel, B. H. R., Wortmann, S. B., Koelker, S., Hoffmann, G. F., Prokisch, H., Mendes, M. & Staufner, C., 23-Jul-2020, In : Genetics in Medicine. 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., Ten Broeke, S. W., Plazzer, J-P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J-P., Nielsen, M. & Møller, P., 20-Jul-2020, In : Genetics in Medicine. 1 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

    Heiner-Fokkema, M. R., van der Krogt, J., de Boer, F., Fokkert-Wilts, M. J., Maatman, R. G. H. J., Hoogeveen, I. J. & Derks, T. G. J., 13-Jul-2020, In : Genetics in Medicine.

    Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

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