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Novel gene and pathomechanism in Cornelia de Lange syndrome

Autor: Parenti, I., Ruiz Gil, S., Pie, J., Strom, T. M., Brouwer, R., Diab, F., Dupe, V., Gillessen-Kaesbach, G., Mulugeta, E., Ijcken, W., Ramos, F., erwan watrin, Wendt, K. S., Kaiser, F. J.

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27, pp.830-831
European Journal of Human Genetics, 2019, 27, pp.830-831
HAL

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9ceaeb500da55b77da2b5bff220a4a6d
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02355729

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Autor: Olsen, R. K., Konarikova, E., Giancaspero, T. A., Mosegaard, S., Boczonadi, V., Matakovic, L., Veauville-Merllie, A., Terrile, C., Schwarzmayr, T., Haack, T. B., Auranen, M., Leone, P., Galluccio, M., Imbard, A., Gutierrez-Rios, P., Palmfeldt, J., Graf, E., Vianey-Saban, Christine, Oppenheim, M., Schiff, M., Pichard, S., Rigal, O., Pyle, A., Chinnery, P. F., Konstantopoulou, V., Moslinger, D., Feichtinger, R. G., Talim, B., Topaloglu, H., Coskun, T., Gucer, S., Botta, A., Pegoraro, E., Malena, A., Vergani, L., Mazza, D., Zollino, M., Ghezzi, D., Acquaviva, C., Tyni, T., Boneh, A., Meitinger, T., Strom, T. M., Gregersen, N., Mayr, J. A., Horvath, R., Barile, M., Prokisch, H.

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1130-45
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, ' Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45 . https://doi.org/10.1016/j.ajhg.2016.04.006

International audience; Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0cbd7b225ccfd8f625782ca638779b5b
https://hal.archives-ouvertes.fr/hal-01850412

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

Autor: Ullah, A., Muhammad Umair, Yousaf, M., Khan, S. A., Nazim-Ud-Din, M., Shah, K., Ahmad, F., Azeem, Z., Ali, G., Alhaddad, B., Rafique, A., Jan, A., Haack, T. B., Strom, T. M., Meitinger, T., Ghous, T., Ahmad, W.

Publikováno v: Mol. Vis. 23, 482-494 (2017)
Scopus-Elsevier

Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Paki­stani origin. Methods: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1957e3598a598a74f69f8590d11679f2
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51631

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