Ralf a husain
WebbRichard A. Gibbs, Richard M. Weinshilboum Published online: March 21, 2024 p1062-1072 Full-Text HTML PDF Supplemental Materials Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis Nicholas Owen, Maria Toms, Rodrigo M. Young, Webb23 okt. 2024 · Ralf A. Husain, SMArtCARE study group Show authors Orphanet Journal of Rare Diseases 17, Article number: 384 ( 2024 ) Cite this article 1636 Accesses 1 Citations 17 Altmetric Metrics Abstract Background
Ralf a husain
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Webb11 juli 2013 · ELAC2 mutations cause a mitochondrial RNA processing defect associated ... ... Sign in Webb20 sep. 2006 · Ralf A. Husain Universitätsklinikum Jena HS Fink K Lang B Merkle Show all 6 authors Request full-text Discover the world's research No full-text available Request full-text PDF Citations (0)...
WebbDOI: 10.1016/j.ejpn.2013.07.005 Corpus ID: 25627785; Epilepsy in Aicardi-Goutières syndrome. @article{Ramantani2014EpilepsyIA, title={Epilepsy in Aicardi-Gouti{\`e}res syndrome.}, author={Georgia Ramantani and Louis Maillard and Thomas Bast and Ralf A Husain and Pascal Niggemann and J{\"u}rgen Kohlhase and Christoph Hertzberg and … Webbrange 0.70 2.10) and CSF lactate elevated at 6.20 mmol/l (ref. range 0.89- 1.66 mmol/l). Brain - MRI at the age of 5 years showed a severe white matter volume reduction with …
WebbALF acute liver failure, ELT elevated liver transaminases, ILFS1 infantile liver failure syndrome 1, IUGR intrauterine growth retardation, RALF recurrent acute liver failure, SGA small for gestational age. a LARS1-04 deceased aged 1.8 years during an encephalopathic episode. b Pre-emptive family history triggered diagnosis. Open table in a new tab
WebbDr. med. Ralf Husain Klinik für Neuropädiatrie, Oberarzt, Neuropädiatrie, SPZ, Stoffwechselzentrum, Klinische Genetik Telefon: 03641 - 9 329 680 Fax: 03641 - 9 329 …
WebbAU - Husain, Ralf A. N1 - Funding Information: We thank the patients and their families. G.H. was supported by the Ochsner MD-PhD scholarship and a MCRI PhD Top-Up … balai resort lapu lapuWebbRalf A Husain, Christian Rauscher, Regina Trollmann, Sven F Garbade, Andreas Hahn, Maja von der Hagen, Angela M Kaindl. Summary. Background . Given the novelty of gene … balai riset[email protected] Telefon: 03641 - 9 329 680 Fax: 03641 - 9 329 662. Dr. med. Heike de Vries Klinik für Neuropädiatrie, Oberärztin, Neuropädiatrie, SPZ … argue meaning in urdu languageWebb25 aug. 2024 · Ralf A. Husain Article 27 Aug 2024 A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and … bal aires polka bandWebbRalf A. Husain works at the Department of Neuropediatrics, University Hospital Jena. Research interests are mitochondrial diseases, neurodegenerative diseases and other … balai restaurant cebuWebbAvslutar tre dagars konfererande i Tylösand med att hålla två föredrag tillsammans med Mikael Johansson om drönargränser och om nyttan med digitala…. Gillat av Husein … balai riset budidaya ikan hiasWebb25 nov. 2013 · Various kinds of aldehyde-mediated chemical modifications of proteins have been identified as being exclusively covalent. We report a unique noncovalent … arguichti sargsian