Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Saskia M. Herbst"'
Autor:
Martin Haeussler, Otfried Debus, Saskia M. Herbst, Rita Morgner, T. Geis, Joerg Budde, Gertrud Strobl-Wildemann, Ute Hehr, Kerstin Muelleder, Nathalie Beaud, Deborah J. Morris-Rosendahl, Matthias Ensslen, Michael Gilbert, Christiane R. Proepper, Sophia Ross, Andreas Hahn, Gero von Gersdorff, Heike Philippi, Paul Vosschulte, Ingo Borggraefe, Ralf Heiming, Gerhard Schuierer, Gerhard Kurlemann
Publikováno v:
Brain and Development. 38:399-406
Background: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug resistant epilepsy within the first year. Aim: To analyze the epileptogenic phenotype and response to antiepileptic therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90cc13a9ff423e5cdac7f1f6cd43a060
https://doi.org/10.1016/j.braindev.2015.10.001
https://doi.org/10.1016/j.braindev.2015.10.001
Introduction and Background: Familial medullary thyroid cancer (FMTC) is caused by gain of function mutations in the proto-oncogene RET (rearranged during transfection). Missense mutations within exon 14 including p.Val804Met are known to cause FMTC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6440361e0d60e9c111da371bf30d66
https://europepmc.org/articles/PMC4836117/
https://europepmc.org/articles/PMC4836117/
Autor:
Sophie Hinreiner, Michael Melter, T. Geis, Hugo Segerer, Ute Hehr, Roland Brandl, Saskia M. Herbst
Publikováno v:
OBM Genetics. 2:1-1
Background: Neonatal muscular hypotonia is a common clinical feature on neonatal intensive care units with a broad spectrum of etiologies. Besides more common and obvious underlying conditions like prematurity or Down syndrome many rare disorders wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db4d4ba8974ad639f11c43be7d4b1a5a
https://doi.org/10.21926/obm.genet.1801015
https://doi.org/10.21926/obm.genet.1801015
Autor:
Saskia M. Herbst, T. Rödl, Carsten Posovszky, Michael Melter, F. Jochum, Thomas F. E. Barth, S. Schirmer, J.A. Schroeder, J. Vermehren, Ute Hehr
Publikováno v:
Europe PubMed Central
Identifying rare genetic forms of infantile cholestasis is challenging due to their similar clinical presentation and their diverse etiology. After exclusion of common non-genetic causes a huge list of rare differential diagnosis remains to be solved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0483ec176b50e435803baa5f7d31a4b
https://pubmed.ncbi.nlm.nih.gov/25771912
https://pubmed.ncbi.nlm.nih.gov/25771912
Publikováno v:
Journal of Translational Medicine, Vol 9, Iss 1, p 79 (2011)
Journal of Translational Medicine
Journal of Translational Medicine
Compelling evidence broadens our understanding of tumors as highly heterogeneous populations derived from one common progenitor. In this review we portray various stages of tumorigenesis, tumor progression, self-seeding and metastasis in analogy to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20e554dc2b8bcd40f03d2f22cb781bc