Zobrazeno 1 - 10
of 558
pro vyhledávání: '"H. Strehl"'
Autor:
Martin Gencik, Peter Jagiello, A. Stefanski, C. Hammans, Larissa Arning, Stefan Wieczorek, H. Strehl, Jörg T. Epplen
Publikováno v:
Human Mutation. 21:630-635
Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization reveal
Publikováno v:
Neuropediatrics. 33:90-92
Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20
Publikováno v:
Toloo-e-behdasht. 2024, Vol. 23 Issue 3, p30-45. 16p.
Autor:
Johannes Zschocke, Beat Steinmann, Georg F. Hoffmann, Peter E. Clayton, Philippa B. Mills, N. Wagner, H. Strehl, Nicole I. Wolf, Axel R. Franz, Matthias R. Baumgartner, Thomas Bast, Bernhard Schmitt, Soyhan Bagci, M. Windfuhr
Publikováno v:
Hoffmann, G F, Schmitt, B, Windfuhr, M, Wagner, N, Strehl, H, Bagci, S, Franz, A R, Mills, P B, Clayton, P T, Baumgartner, M R, Steinmann, B, Bast, T, Wolf, N I & Zschocke, J 2007, ' Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy ', Journal of Inherited Metabolic Disease, vol. 30, no. 1, pp. 96-99 . https://doi.org/10.1007/s10545-006-0508-4
Journal of Inherited Metabolic Disease, 30(1), 96-99. Springer Netherlands
Journal of Inherited Metabolic Disease, 30(1), 96-99. Springer Netherlands
Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to treatment with conventional antiepileptic drugs. Six children with pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d450b53b1689051294192ad341c4284b
https://research.vumc.nl/en/publications/31aa85ef-f987-489c-907a-11030caf2a70
https://research.vumc.nl/en/publications/31aa85ef-f987-489c-907a-11030caf2a70
Autor:
Attallah, Omneya1,2 (AUTHOR) o.attallah@aast.edu
Publikováno v:
Biomimetics (2313-7673). Mar2024, Vol. 9 Issue 3, p188. 30p.
Publikováno v:
Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]. 171(2)
Intension of our examination is to investigate changes in ploidy during radiotherapy and to find out radiosensitive cloni of tumors.In November 1993 a 83-year old patient with a carcinoma of the vulva was introduced to the Strahlenklinik der Städtis
Autor:
N, Zamboglou, T, Schnabel, C, Kolotas, W, Achterrath, H, Strehl, S, Dalhäuser, H G, Vogt, L, Lenaz, G, Schmitt
Publikováno v:
Seminars in oncology. 21(5 Suppl 12)
Between 1987 and 1991, 103 patients with advanced head and neck carcinoma were treated with radiochemotherapy plus carboplatin. Tumors were located in the oral cavity in 33 patients, the oropharynx in eight, and the hypopharynx in seven. Four patient
Publikováno v:
Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]. 168(6)
From 1990 to 1991 15 patients with advanced head and neck carcinomas underwent hyperfractionated accelerated radiotherapy (2 x 1.6 Gy/day, five days/week, total dose 64.0 to 67.2 Gy) and simultaneous intravenous application of Carboplatin (60 mg/m2,
Publikováno v:
Der Radiologe. 30(5)
Autor:
Guedj, Carole1,2 (AUTHOR) carole.guedj@unige.ch, Tyrand, Rémi1 (AUTHOR) emmanuel.badier@unige.ch, Badier, Emmanuel1 (AUTHOR) frederic.grouiller@unige.ch, Planchamp, Lou2 (AUTHOR) mad.stringer.me@gmail.com, Stringer, Madison2 (AUTHOR) myriam.zimmermann@unige.ch, Zimmermann, Myriam Ophelia2 (AUTHOR), Férat, Victor3 (AUTHOR) victor.ferat@unige.ch, Ha-Vinh Leuchter, Russia4 (AUTHOR) russia.ha-vinhleuchter@hcuge.ch, Grouiller, Frédéric1,2,5 (AUTHOR)
Publikováno v:
Bioengineering (Basel). Dec2023, Vol. 10 Issue 12, p1352. 19p.