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Antimicrobial Agents and Chemotherapy|February 3, 2026
Characteristics of individual cyp51A SNPs and combinations thereof impacting the azole phenotype in TR34-mediated resistance genotypes of Aspergillus fumigatusYinggai Song, Jochem B Buil, Jan Zoll, et al.
JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.
Molecular Therapy. Nucleic Acids|June 14, 2023
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosaRenske T W Schellens, Sanne Broekman, Theo Peters, et al.
The Journal of Biological Chemistry|November 12, 2009
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemiaJenny van der Wijst, Bob Glaudemans, Hanka Venselaar, et al.
Growth Factors (Chur, Switzerland)|April 23, 2009
Role of the C-terminal linear region of EGF-like growth factors in ErbB specificitySebastian P van der Woning, Hanka Venselaar, Walter van Rotterdam, et al.
Journal of Bacteriology|July 10, 2013
Bacterial CS2 hydrolases from Acidithiobacillus thiooxidans strains are homologous to the archaeal catenane CS2 hydrolaseMarjan J Smeulders, Arjan Pol, Hanka Venselaar, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 22, 2021
Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcriptionLotte E Tholen, Caro Bos, Pascal W T C Jansen, et al.
Molecular Therapy. Nucleic Acids|October 2, 2025
Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosaMerel Stemerdink, Lucija Malinar, Sanne Broekman, et al.
Biochimica Et Biophysica Acta|August 20, 2013
Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactionsHerman G P Swarts, Karl M Weigand, Hanka Venselaar, et al.
American Journal of Human Genetics|December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disordersLaurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
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