Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anja Holz"'
Autor:
Claudia Stollbrink-Peschgens, Patricia Klemm, Lambert P. van den Heuvel, Ingo Kurth, Clara D.M. van Karnebeek, Michael Mull, Eva Lausberg, C. Libioulle, Robert Meyer, Thomas Eggermann, Emile Van Schaftingen, Klaus Tenbrock, Daniela Choukair, Joseph P. Dewulf, François-Guillaume Debray, Joachim Weis, Kim Ohl, Norbert Wagner, Prasad T Oommen, Claudia Haase, Elsa Wiame, Dagmar Wieczorek, Arndt Borkhardt, Matthias Begemann, Sebastian Gießelmann, Anja Holz, Florian Kraft, Harald Surowy, Miriam Elbracht, Clemens Sommer, Ramona Salvarinova, Stephanie Demuth, Till Braunschweig, Martin Häusler
Publikováno v:
Journal of Clinical Investigation, 131
J Clin Invest
Journal of clinical investigation, 131(12):e143078. The American Society for Clinical Investigation
The Journal of clinical investigation, Vol. 131, no. 12, p. e143078 [1-13] (2021)
Journal of Clinical Investigation, 131, 12
Journal of Clinical Investigation, Vol. 131, no.12 (2021)
J Clin Invest
Journal of clinical investigation, 131(12):e143078. The American Society for Clinical Investigation
The Journal of clinical investigation, Vol. 131, no. 12, p. e143078 [1-13] (2021)
Journal of Clinical Investigation, 131, 12
Journal of Clinical Investigation, Vol. 131, no.12 (2021)
BACKGROUND. Deciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell’s function and its pathophysiology. METHODS. Whole-exome sequencing, yeast 2-hybrid
Autor:
J. P. Dewulf, Matthias Begemann, E. Van Schaftingen, L. van den Heuvel, C. Van Karnebeek, Thomas Eggermann, Joachim Weis, Prasad T Oommen, Claudia Haase, Daniela Choukair, François-Guillaume Debray, Anja Holz, M. Haeusler, Robert Meyer, S. Giesselmann, Eva Lausberg, Kim Ohl, Harald Surowy, Dagmar Wieczorek, C. Libioulle, Ramona Salvarinova, Stephanie Demuth, Elsa Wiame, Klaus Tenbrock, Florian Kraft, Miriam Elbracht, Till Braunschweig, Clemens Sommer, Michael Mull, Patricia Klemm, Ingo Kurth, Arndt Borkhardt
BackgroundDeciphering the function of the many genes previously classified as uncharacterized “open reading frame” (orf) completes our understanding of cell function and its pathophysiology.MethodsWhole-exome sequencing, yeast 2-hybrid and transc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cfec6f9ac7ece9595863b6d7913faf0
https://doi.org/10.1101/2021.03.08.21252805
https://doi.org/10.1101/2021.03.08.21252805
Autor:
Margarita Stefanova, Alexander Pepler, Saskia Biskup, Anna Sandestig, Anja Holz, Per Odelberg-Johnsson, Ingela Danielsson, Karolina Engström
Publikováno v:
Molecular Syndromology. 10:313-319
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have b
Publikováno v:
Cornea. 40(3)
Purpose To report a new genetic mutation in the COL4A1 gene, which was identified in a baby girl with Peters anomaly (PA), a rare anterior segment mesenchymal dysgenesis, which is characterized by unilateral or bilateral corneal opacities often accom
Autor:
Adrian Streit, Anja Holz
Publikováno v:
Genome Biology and Evolution
The nematode family Strongyloididae is of particular interest because it contains important parasites of medical and veterinary relevance. In addition, species of this family can form parasitic and free-living generations and it also occupies an inte