Zobrazeno 1 - 10
of 503
pro vyhledávání: '"Olaf A, Bodamer"'
Autor:
Suraj S. Shah, Anne Fulton, Mireille Jabroun, Diana Brightman, Brittany N. Simpson, Olaf A. Bodamer
Publikováno v:
American Journal of Medical Genetics Part A. 191:1325-1338
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::595b77ba3473274746e03b7be90bc510
https://doi.org/10.1002/ajmg.a.63155
https://doi.org/10.1002/ajmg.a.63155
Autor:
Leyla Yavuz Saricay, Sandra Hoyek, Ayush Ashit Parikh, Grace Baldwin, Olaf a Bodamer, Efren Gonzalez, Nimesh A. Patel
Publikováno v:
Ophthalmic Genetics. :1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbd8481598fc2e624e95458e470685b0
https://doi.org/10.1080/13816810.2023.2172190
https://doi.org/10.1080/13816810.2023.2172190
Autor:
Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish c
Externí odkaz:
https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b
Autor:
Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
Publikováno v:
Genes. 13(10)
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464a25f1a4065adb50c2edaa2166d9c6
https://pubmed.ncbi.nlm.nih.gov/36292647
https://pubmed.ncbi.nlm.nih.gov/36292647
Autor:
Christina Y Hung, Barbara Volkmar, James D Baker, Johann W Bauer, Emanuela Gussoni, Stefan Hainzl, Alfred Klausegger, Jose Lorenzo, Ivana Mihalek, Olaf Rittinger, Mustafa Tekin, Julia E Dallman, Olaf A Bodamer
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189324 (2017)
Primordial growth failure has been linked to defects in the biology of cell division and replication. The complex processes involved in microtubule spindle formation, organization and function have emerged as a dominant patho-mechanism in these condi
Externí odkaz:
https://doaj.org/article/f9d44fb01583411baaecefa003b13396
Autor:
Danielle G. Rabinowitz, Ryan C. L. Brewster, Lillian J. Juttukonda, Olaf A. Bodamer, Melinda J. Palma
Publikováno v:
Clinical Pediatrics. :000992282211480
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404aa16f39517cfcc8dec78e415943d5
https://doi.org/10.1177/00099228221148076
https://doi.org/10.1177/00099228221148076
Publikováno v:
Molecular Genetics and Metabolism. 135:S16-S17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::daee44b8fcbec180f407f67bf61635d0
https://doi.org/10.1016/j.ymgme.2021.11.021
https://doi.org/10.1016/j.ymgme.2021.11.021
Publikováno v:
Molecular Genetics and Metabolism. 135:S17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eec3b5d93fff9a1e8711aa6f5218c3f4
https://doi.org/10.1016/j.ymgme.2021.11.022
https://doi.org/10.1016/j.ymgme.2021.11.022
Autor:
Olaf A. Bodamer
Publikováno v:
Annales Nestlé (Ed. française). 68:55-59
Robert Guthrie (1916–1995) est à l’origine du dépistage néonatal de la phénylcétonurie (PCU): il a développé un test d’inhibition bactérienne pour l’analyse semi-quantitative de la phénylalanine, qui fut le premier test adapté pour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c68327c775caca85fa1e3739e5ed1c11
https://doi.org/10.1159/000323155
https://doi.org/10.1159/000323155