Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.

Autor: Volk, M¹ (AUTHOR), Writzl, K¹ (AUTHOR), Veble, A¹ (AUTHOR), Jaklič, H¹ (AUTHOR), Teran, N¹ (AUTHOR), Prosenc, B¹ (AUTHOR), Štimpfel, M² (AUTHOR), Virant Klun, I³ (AUTHOR), Vrtačnik Bokal, E² (AUTHOR), Ban Frangež, H² (AUTHOR), Peterlin, B¹ (AUTHOR) borut.peterlin@kclj.si

Publikováno v: Balkan Journal of Medical Genetics. Dec2023, Vol. 26 Issue 2, p5-10. 6p.

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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x)

Autor: Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Maurizio, G., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Stefánsdottir, V., Ulph, F.

Publikováno v: Forzano, F, Antonova, O, Clarke, A, de Wert, G, Hentze, S, Jamshidi, Y, Moreau, Y, Perola, M, Prokopenko, I, Read, A, Reymond, A, Stefansdottir, V, van El, C, Genuardi, M, Maurizio, G, Peterlin, B, Oliveira, C, Writzl, K, Houge, G D, Cordier, C, de Wert, G, Howard, H, Macek, M, Melegh, B, Mendes, A, Radojkovic, D, Rial-Sebbag, E, Stefánsdottir, V, Ulph, F & van El, C 2022, ' Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x) ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01067-0

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::e2e114c673b14919c8594654eb325917
https://doi.org/10.1038/s41431-022-01067-0

Mowat-Wilson syndrome:growth charts

Autor: Ivanovski I., Djuric O., Broccoli S., Caraffi S. G., Accorsi P., Adam M. P., Avela K., Badura-Stronka M., Bayat A., Clayton-Smith J., Cocco I., Cordelli D. M., Cuturilo G., Di Pisa V., Dupont Garcia J., Gastaldi R., Giordano L., Guala A., Hoei-Hansen C., Inaba M., Iodice A., Nielsen J. E. K., Kuburovic V., Lazalde-Medina B., Malbora B., Mizuno S., Moldovan O., Moller R. S., Muschke P., Otelli V., Pantaleoni C., Piscopo C., Poch-Olive M. L., Prpic I., Marin Reina P., Raviglione F., Ricci E., Scarano E., Simonte G., Smigiel R., Tanteles G., Tarani L., Trimouille A., Valera E. T., Schrier Vergano S., Writzl K., Callewaert B., Savasta S., Street M. E., Iughetti L., Bernasconi S., Giorgi Rossi P., Garavelli L.

Publikováno v: Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S G, Accorsi, P, Adam, M P, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cocco, I, Cordelli, D M, Cuturilo, G, Di Pisa, V, Dupont Garcia, J, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, J E K, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Møller, R S, Muschke, P, Otelli, V, Pantaleoni, C, Piscopo, C, Poch-Olive, M L, Prpic, I, Marín Reina, P, Raviglione, F, Ricci, E, Scarano, E, Simonte, G, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E T, Schrier Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, M E, Iughetti, L, Bernasconi, S, Giorgi Rossi, P & Garavelli, L 2020, ' Mowat-Wilson syndrome : growth charts ', Orphanet Journal of Rare Diseases, vol. 15, 151 . https://doi.org/10.1186/s13023-020-01418-4
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Volume 15
Issue 1
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Background: Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36eb6ffaf0310403b7e7418f5c8baafa
https://curis.ku.dk/portal/da/publications/mowatwilson-syndrome(958dfaa0-b4f4-4afb-bc1b-f587e943a8f5).html