Whole genomic approach in mutation discovery of infantile spasms patients von Lee, Seungbok, Jang, Sesong, Kim, Jong-Il, Chae, Jong Hee, Kim, Ki Joong, Lim, Byung Chan

Volltext

A familial case of limb-girdle muscular dystrophy with CAV3 mutation von Lee, Seungbok, Jang, Sesong, Shim, Youngkyu, Kim, Woo Joong, Kim, Soo Yeon, Cho, Anna, Kim, Hunmin, Kim, Jong-Il, Lim, Byung Chan, Hwang, Hee, Choi, Jieun, Kim, Ki Joong, Chae, Jong Hee

Volltext

A familial case of limb-girdle muscular dystrophy with CAV3 mutation von Lee, Seungbok, Jang, Sesong, Shim, Youngkyu, Kim, Woo Joong, Kim, Soo Yeon, Cho, Anna, Kim, Hunmin, Kim, Jong-Il, Lim, Byung Chan, Hwang, Hee, Choi, Jieun, Kim, Ki Joong, Chae, Jong Hee

Volltext

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity von Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

Volltext

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity von Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

Volltext

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly von Herbst, Charlotte, Bothe, Viktoria, Wegler, Meret, Axer-Schaefer, Susanne, Audebert-Bellanger, Séverine, Gecz, Jozef, Cogne, Benjamin, Feldman, Hagit Baris, Horn, Anselm H. C., Hurst, Anna C. E., Kelly, Melissa A., Kruer, Michael C., Kurolap, Alina, Laquerriere, Annie, Li, Megan, Mark, Paul R., Morawski, Markus, Nizon, Mathilde, Pastinen, Tomi, Polster, Tilman, Saugier-Veber, Pascale, SeSong, Jang, Sticht, Heinrich, Stieler, Jens T., Thifffault, Isabelle, van Eyk, Clare L., Marcorelles, Pascale, Vezain-Mouchard, Myriam, Abou Jamra, Rami, Oppermann, Henry

Volltext

FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy von Cho, Jae So, Kim, Seung Hyo, Kim, Ha Young, Chung, Taesu, Kim, Dongsup, Jang, Sesong, Lee, Seung Bok, Yoo, Seung Keun, Shin, Jongyeon, Kim, Jong-il, Kim, Hunmin, Hwang, Hee, Chae, Jong-Hee, Choi, Jieun, Kim, Ki Joong, Lim, Byung Chan

Volltext

Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men von Son, Ki Young, Son, Ho-Young, Chae, Jeesoo, Hwang, Jinha, Jang, SeSong, Yun, Jae Moon, Cho, BeLong, Park, Jin Ho, Kim, Jong-Il

Volltext

Additional file 1: Table S1. of Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men von Son, Ki Young, Son, Ho-Young, Jeesoo Chae, Jinha Hwang, SeSong Jang, Yun, Jae Moon, BeLong Cho, Park, Jin, Jong-Il Kim

Volltext bestellen