Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fenja Markus"'
Publikováno v:
Genes, Vol 13, Iss 11, p 2154 (2022)
TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high cl
Externí odkaz:
https://doaj.org/article/9df146a3d77a4b08a17d699aa22387f7
Autor:
Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y‐aminobutyric acid (GABA) is a major inhibitor
Externí odkaz:
https://doaj.org/article/2953f38a05f94b3ba93aa65cf0fdc85f
Autor:
Christine Vössing, Paul Atigbire, Jannis Eilers, Fenja Markus, Knut Stieger, Fei Song, John Neidhardt
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7, p 3583 (2021)
X-linked retinitis pigmentosa (XLRP) is frequently caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. A complex splicing process acts on the RPGR gene resulting in three major isoforms: RPGRex1-19, RPGRORF15 and RPGRskip14/
Externí odkaz:
https://doaj.org/article/6b740196e9ab4242a7ea5b0feaa898a6
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2154
TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high cl
Autor:
Annika Kannengießer, Patricia Näder, Marta Owczarek-Lipska, Paul Atigbire, Christine Vössing, Fenja Markus, G. Christoph Korenke, Eva Bültmann, John Neidhardt, Alexander Scholten
Publikováno v:
Journal of Human Genetics
Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal mi
Autor:
Markus, Fenja1,2 (AUTHOR), Angelini, Chloé3 (AUTHOR), Trimouille, Aurelien3 (AUTHOR), Rudolf, Gabrielle4,5 (AUTHOR), Lesca, Gaetan6 (AUTHOR), Goizet, Cyril3,4 (AUTHOR), Lasseaux, Eulalie3 (AUTHOR), Arveiler, Benoit3 (AUTHOR), Slegtenhorst, Marjon7 (AUTHOR), Brooks, Alice S.7 (AUTHOR), Abou Jamra, Rami8 (AUTHOR), Korenke, Georg‐Christoph9 (AUTHOR), Neidhardt, John2,10 (AUTHOR), Owczarek‐Lipska, Marta1,2 (AUTHOR) marta.owczarek-lipska@uni-oldenburg.de
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2020, Vol. 8 Issue 9, p1-13. 13p.
Autor:
Vössing, Christine1 (AUTHOR) christine.voessing@uni-oldenburg.de, Atigbire, Paul1 (AUTHOR) paul.atigbire@uol.de, Eilers, Jannis1 (AUTHOR) jannis.eilers@uni-oldenburg.de, Markus, Fenja2 (AUTHOR) fenja.markus@uni-oldenburg.de, Stieger, Knut3 (AUTHOR) Knut.Stieger@uniklinikum-giessen.de, Song, Fei1 (AUTHOR) fei.song@uol.de, Neidhardt, John1,4,5 (AUTHOR) john.neidhardt@uol.de, Wijnholds, Jan (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Apr2021, Vol. 22 Issue 7, p3583. 1p.
Autor:
Lars Green
Markus, ein attraktiver Mann Mitte vierzig, zieht sich nach einem Schicksalsschlag aus dem normalen Leben und sozialen Umfeld zurück. Bis eine junge Frau in die Wohnung über ihm zieht. Dieses Zusammentreffen zweier komplett unterschiedlichen Mensch