Genetic and in vitro analysis in a large family with a PRDM10 variant and a phenotype partly resembling Birt-Hogg-Dube syndrome

Autor: van de Beek, I., Glykofridis, I. E., Waisfisz, Q., Meijers-Heijboer, H., van Steensel, M. A. M., Wolthuis, R. M. F., Houweling, A. C.

Publikováno v: van de Beek, I, Glykofridis, I E, Waisfisz, Q, Meijers-Heijboer, H, van Steensel, M A M, Wolthuis, R M F & Houweling, A C 2020, ' Genetic and in vitro analysis in a large family with a PRDM10 variant and a phenotype partly resembling Birt-Hogg-Dube syndrome ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 546-546 .
European Journal of Human Genetics, 28(SUPPL 1), 546-546. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dc3017443bfd55c3531e8fc2d703b1c7
https://research.vumc.nl/en/publications/0ea15d9a-17d9-4478-92ec-f7c0fb01be68

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Seventh BHD international symposium: recent scientific and clinical advancement

Autor: Mark R. Woodford, Avgi Andreou, Masaya Baba, Irma van de Beek, Chiara Di Malta, Iris Glykofridis, Hannah Grimes, Elizabeth P. Henske, Othon Iliopoulos, Masatoshi Kurihara, Romain Lazor, W. Marston Linehan, Kenki Matsumoto, Stefan J. Marciniak, Yukiko Namba, Arnim Pause, Neil Rajan, Anindita Ray, Laura S. Schmidt, Wei Shi, Ortrud K. Steinlein, Julia Thierauf, Roberto Zoncu, Anna Webb, Mehdi Mollapour

Publikováno v: Oncotarget, 13(1), 173-181. Impact Journals
Oncotarget
Oncotarget, vol. 13, pp. 173-181
Woodford, M R, Andreou, A, Baba, M, van de Beek, I, Malta, C D, Glykofridis, I, Grimes, H, Henske, E P, Iliopoulos, O, Kurihara, M, Lazor, R, Linehan, W M, Matsumoto, K, Marciniak, S J, Namba, Y, Pause, A, Rajan, N, Ray, A, Schmidt, L S, Shi, W, Steinlein, O K, Thierauf, J, Zoncu, R, Webb, A & Mollapour, M 2022, ' Seventh BHD international symposium : recent scientific and clinical advancement ', Oncotarget, vol. 13, no. 1, pp. 173-181 . https://doi.org/10.18632/ONCOTARGET.28176

The 7th Birt-Hogg-Dubé (BHD) International Symposium convened virtually in October 2021. The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f02a8383a9b6087664aaf7a213d8165
https://research.vumc.nl/en/publications/35a5e841-a617-4b7f-bf31-15bfe5c86a78