Suchergebnisse - Venselaar, Hanka

Structural Model of a Putrescine-Cadaverine Permease from Trypanosoma cruzi Predicts Residues Vital for Transport and Ligand Binding von Soysa, Radika, Venselaar, Hanka, Poston, Jacqueline, Ullman, Buddy, Hasne, Marie-Pierre

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Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics von Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gert, Gilissen, Christian

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The alpha-kinase family: an exceptional branch on the protein kinase tree von Middelbeek, Jeroen, Clark, Kristopher, Venselaar, Hanka, Huynen, Martijn A., van Leeuwen, Frank N.

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Status quo of annotation of human disease variants von Venselaar, Hanka, Camilli, Franscesca, Gholizadeh, Shima, Snelleman, Marlou, Brunner, Han G, Vriend, Gert

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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces von Venselaar, Hanka, te Beek, Tim AH, Kuipers, Remko KP, Hekkelman, Maarten L, Vriend, Gert

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A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response von Bronkhorst, Alfred W., van Cleef, Koen W.R., Venselaar, Hanka, van Rij, Ronald P.

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Functional characterization of TBR1 variants in neurodevelopmental disorder von den Hoed, Joery, Sollis, Elliot, Venselaar, Hanka, Estruch, Sara B., Deriziotis, Pelagia, Fisher, Simon E.

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Homology modelling and spectroscopy, a never-ending love story von Venselaar, Hanka, Joosten, Robbie P., Vroling, Bas, Baakman, Coos A. B., Hekkelman, Maarten L., Krieger, Elmar, Vriend, Gert

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Retinal-Based Proton Pumping in the Near Infrared von Ganapathy, Srividya, Venselaar, Hanka, Chen, Que, de Groot, Huub J. M., Hellingwerf, Klaas J., de Grip, Willem J.

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Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features von Vlasveld, L. Tom, Janssen, Roel, Bardou-Jacquet, Edouard, Venselaar, Hanka, Hamdi-Roze, Houda, Drakesmith, Hal, Swinkels, Dorine W.

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A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment von Nouws, Jessica, Wibrand, Flemming, van den Brand, Mariël, Venselaar, Hanka, Duno, Morten, Lund, Allan M., Trautner, Simon, Nijtmans, Leo, Østergard, Elsebet

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Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia von van der Wijst, Jenny, Glaudemans, Bob, Venselaar, Hanka, Nair, Anil V., Forst, Anna-Lena, Hoenderop, Joost G. J., Bindels, René J. M.

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Bacterial CS(2) Hydrolases from Acidithiobacillus thiooxidans Strains Are Homologous to the Archaeal Catenane CS(2) Hydrolase von Smeulders, Marjan J., Pol, Arjan, Venselaar, Hanka, Barends, Thomas R. M., Hermans, John, Jetten, Mike S. M., Op den Camp, Huub J. M.

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A Gate Hinge Controls the Epithelial Calcium Channel TRPV5 von van der Wijst, Jenny, Leunissen, Elizabeth H., Blanchard, Maxime G., Venselaar, Hanka, Verkaart, Sjoerd, Paulsen, Candice E., Bindels, René J., Hoenderop, Joost G.

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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome von Ahmed, Zubair M., Riazuddin, Saima, Aye, Sandar, Ali, Rana A., Venselaar, Hanka, Anwar, Saima, Belyantseva, Polina P., Qasim, Muhammad, Riazuddin, Sheikh, Friedman, Thomas B.

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes von Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

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SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15) von Kim, Hee-Jin, Won, Hong-Hee, Park, Kyoung-Jin, Hong, Sung Hwa, Ki, Chang-Seok, Cho, Sang Sun, Venselaar, Hanka, Vriend, Gert, Kim, Jong-Won

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Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2) von de Baaij, Jeroen H. F., Stuiver, Marchel, Meij, Iwan C., Lainez, Sergio, Kopplin, Kathrin, Venselaar, Hanka, Müller, Dominik, Bindels, René J. M., Hoenderop, Joost G. J.

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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle von Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P

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Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis von Cnossen, Wybrich R., te Morsche, René H. M., Hoischen, Alexander, Gilissen, Christian, Chrispijn, Melissa, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Veltman, Joris A., Drenth, Joost P. H.

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