Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Uta Diebold"'
Autor:
Brigitte Schlegelberger, Susanne Morlot, Tim Ripperger, Uta Diebold, Brigitte Pabst, Michel Morlot, Gunnar Schmidt, Doris Steinemann, Bernd Auber, Monika M. Golas
Publikováno v:
American Journal of Medical Genetics Part A.
The PTEN hamartoma tumor syndrome (PHTS) is caused by heterozygous germline variants in PTEN. Here, we report two unrelated patients with juvenile polyposis, macrocephaly, intellectual disability, and hyperpigmented skin macules. Both patients were c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5129dcd67816e4f725c38434ca635cbb
https://doi.org/10.1002/ajmg.a.61166
https://doi.org/10.1002/ajmg.a.61166
Autor:
Gerhard Kluger, Christiane Wagner, Volker Mall, Aurelia Peraud, Karl-Heinz Mücke, Uta Diebold, Bernhart Ostertag, M Granel, A. Sebastian Schroeder, Markus Rauchenzauner, Stefanie Kästner, Monika Friedrich, Rieke Wienand, Bernd Wilken, Angelika Aisch, Manfred Kudernatsch, Barbara Ludwikowski, Andreas Sprinz, Caroline Zeches, Steffen Berweck, Wolfgang Voss, Sonnhild Lütjen
Publikováno v:
Neuropediatrics. 45(5)
In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b7989d93d851328677eb3faacd51ca
https://pubmed.ncbi.nlm.nih.gov/25188830
https://pubmed.ncbi.nlm.nih.gov/25188830
Autor:
C. Gross, Peter Heidemann, Andreas Hehr, Ulrike Beudt, Dagmar Wahl, Uta Diebold, Ute Hehr, Dietmar Mueller
Publikováno v:
European Journal of Pediatrics. 163
Mutations in the human sonic hedgehog gene ( SHH) are the most frequent cause of autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the developing forebrain into two separate hemis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefe538355cefbd3358592b34ebb51f
https://doi.org/10.1007/s00431-004-1459-0
https://doi.org/10.1007/s00431-004-1459-0
Publikováno v:
Epilepsia. 38(7)
Summary: Purpose: The electroencephalographic hallmark of benign childhood epilepsy with centrotemporal spikes (BECTS, or rolandic epilepsy) are characteristically shaped centrotemporal spikes and sharp waves (CTS). This EEG trait, but not BECTS itse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bcf6a6387c8e9aa951c64c895e948d1
https://pubmed.ncbi.nlm.nih.gov/9579905
https://pubmed.ncbi.nlm.nih.gov/9579905