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Body Mass Index and Body Composition in the Dansih Prader-Willi Syndrome Population

Autor: Farholt, Stense, Buciek, Hanne Hove, Blichfeldt, Susanne

Publikováno v: Farholt, S, Buciek, H H & Blichfeldt, S 2013, ' Body Mass Index and Body Composition in the Dansih Prader-Willi Syndrome Population ', 8th International Prader-Willi Syndrome Organisation Conference, Cambridge, United Kingdom, 18/07/2013-21/07/2013 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::a212c71c5e478b9759dc08d9b0eece00
https://pure.au.dk/portal/da/publications/body-mass-index-and-body-composition-in-the-dansih-praderwilli-syndrome-population(33d34502-d294-40dd-8ef4-d812e2717c14).html

Prader-Willi Syndrom

Autor: Farholt, Stense, Blichfeldt, Susanne, Helgogaard, Jytte, Iversen, Kirsten, Lorentzen, Hanne, Løwert, Anette, Wiuff Nielsen, Dorthe, Raith, Per, Rasmussen, Annemarie, Schulze, Astrid, Tamborg, Jens, Troelsen, Børge

Publikováno v: Farholt, S, Blichfeldt, S, Helgogaard, J, Iversen, K, Lorentzen, H, Løwert, A, Wiuff Nielsen, D, Raith, P, Rasmussen, A, Schulze, A, Tamborg, J & Troelsen, B 2006, Prader-Willi Syndrom . i Prader-Willi Syndrom .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::feb7ee216b7b0d7af065b3672a0207fa
https://pure.au.dk/portal/da/publications/praderwilli-syndrom(e079999f-cccf-4084-b6f3-f21d599ad9d6).html

X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

Autor: Schwartz, M., Blichfeldt, Susanne, Müller, Jørn

Publikováno v: Human Genetics; 1996, Vol. 99 Issue 1, p83-87, 5p

The spectrum of intermediate SCN8A-related epilepsy

Autor: Marialuisa Valente, Christina Fenger, Lucio Giordano, Federico Zara, Guido Rubboli, Ida Charlotte Bay Lund, Deb K. Pal, Christian Korff, Salvatore Buono, Renzo Guerrini, Sanjay M. Sisodiya, Alice Bonuccelli, Alessandro Orsini, Tobias Brünger, Sarah von Spiczak, Maria J Miranda, Michael B. Petersen, Peter Procopis, Michael F. Hammer, Ingo Helbig, Katrine M Johannesen, Tomasz Mazurczak, Pierangelo Veggiotti, Alejandra C. Encinas, Dennis Lal, Laura Hernandez-Hernandez, Silvia Masnada, Costanza Varesio, Margherita Mancardi, Antonietta Coppola, Tarja Linnankivi, Patrizia Accorsi, Thea Giacomini, Karine Lascelles, Sarah Burki, Anna-Elina Lehesjoki, Rikke S. Møller, Dorota Hoffman-Zacharska, Cristina Cereda, Melissa Rumple, Elena Gardella, Susanne Blichfeldt, Pasquale Striano, S. Krithika, Marilena Vecchi

Publikováno v: Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844

Objective: Pathogenic variants in SCN 8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS ) to epileptic encephalopathies with variable severity. Furthermore, a few patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83a64bd8cdd1d1626fc9ab3fb373950
http://hdl.handle.net/10138/312952