Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Markus Buelow"'
Autor:
David Süßmuth, Ellen Knierim, Claudia Castiglioni, Enrico Bertini, Laurie D. Smith, Omid Aryani, Markus Buelow, Werner Stenzel, Markus Schuelke
Publikováno v:
European Journal of Human Genetics
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daba716165f373b95e04ccab6fc9f715
http://europepmc.org/articles/PMC8298470
http://europepmc.org/articles/PMC8298470
Autor:
Laurie G. Smith, Esther Gill, Markus Buelow, Ellen Knierim, David Süßmut, Markus Schuelke, Jutta Köhler
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf5799dc4ab05e49e0d961ed536b3990
https://doi.org/10.1055/s-0038-1675995
https://doi.org/10.1055/s-0038-1675995
Autor:
Michael V. Johnston, Rangaramanujam M. Kannan, Ali Fatemi, Elizabeth Nance, Rachel Getzenberg, Michael Porambo, Sujatha Kannan, Manoj K. Mishra, Fan Zhang, Markus Buelow
Extreme prematurity is a major risk factor for perinatal and neonatal brain injury, and can lead to white matter injury that is a precursor for a number of neurological diseases, including cerebral palsy (CP) and autism. Neuroinflammation, mediated b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad0381404860368a494026f71c46812
https://europepmc.org/articles/PMC4732874/
https://europepmc.org/articles/PMC4732874/
