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Sportspecific performance diagnosis in ski mountaineering — comparison of a sportspecific cardiopulmonary exercise test on a treadmill versus outdoors and at altitude, a pilot study2021 Health Promotion & Physical Activity article Biochemistry, Genetics and Molecular Biology High Altitude and Hypoxia Open access
Isabelle Schöffl, Bernhard Bliemsrieder, Thomas Küpper, Volker Schöffl
5citations -
Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)2026 Prenatal Diagnosis article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Ester Mainini, Andreas Dufke, Annette Lischka, +4 more
0citations -
Prenatal testing for imprinting disorders: A laboratory perspective2023 Prenatal Diagnosis article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Jasmin Beygo, Silvia Russo, Pierpaola Tannorella, Gijs W.E. Santen, Andreas Dufke, Elia Schlaich, +1 more
11citations -
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Borut Peterlin, Francesca Gualandi, Aleš Maver, Serenella Servidei, Silvère M. van der Maarel, Alexandre Méjat, +2 more
11citations -
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Daniëlle C M van der Kaay, Anne Maria Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, +4 more
5citations -
Performance of the eazyplex® BloodScreen GN as a simple and rapid molecular test for identification of Gram-negative bacteria from positive blood cultures2021 European Journal of Clinical Microbiology & Infectious Diseases article Biochemistry, Genetics and Molecular Biology Bacterial Identification and Susceptibility Testing Open access cited by 2 patents
Katharina Bach, Birgit Edel, Steffen Höring, Lucie Bartoníčková, Stefan Glöckner, Bettina Löffler, +2 more
11citations -
Second regulatory workshop on utilising in silico models to expedite vaccine development, testing, and lifecycle management - an expert meeting report2026 Vaccine article Biochemistry, Genetics and Molecular Biology Protein purification and stability Open access
Irina Meln, Wim Van Molle, Mónica Vélez, Marc F.D. Baay, Daniel G. Bracewell, Koen Brusselmans, +21 more
0citations -
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands2023 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Cleft Lip and Palate Research Open access
Lisca Wurfbain, Inge L Cox, M. F. van Dooren, Augusta M.A. Lachmeijer, Virginie J. M. Verhoeven, Johanna M. van Hagen, +8 more
9citations -
Quality control and non-clinical testing of iPSC- and ESC-derived medicinal products: A systematic review2026 Stem Cell Reports review Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Akvilė Gasiūnaitė, Mara Tihaya, Inge van Amerongen-Westra, Fong Lin, Pema Gurung, Bahareh Rajaei, +3 more
0citations -
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides2022 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Annemieke M Aartsma-Rus, Alejandro Garanto, Willeke van Roon‐Mom, Erin M. McConnell, Victoria Suslovitch, Winston X. Yan, +2 more
55citations -
High-Capacity Adenoviral Vectors Permit Robust and Versatile Testing of DMD Gene Repair Tools and Strategies in Human Cells2020 Cells article Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research Open access
Marcella Brescia, Josephine M. Janssen, Jin Liu, Manuel A.F.V. Gonçalves
30citations -
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Maria A. Loizidou, Denise G O'Mahony, Leila Dorling, Joe Dennis, Peter Devilee, +4 more
2citations -
bletl ‐ A Python package for integrating BioLector microcultivation devices in the Design‐Build‐Test‐Learn cycle2022 Engineering in Life Sciences software-paper Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Michael Osthege, Niklas Tenhaef, Rebecca Zyla, Carolin Müller, Johannes Hemmerich, Wolfgang Wiechert, +2 more
42citations -
ITIH5 and ECRG4 DNA Methylation Biomarker Test (EI-BLA) for Urine-Based Non-Invasive Detection of Bladder Cancer2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Michael Rose, Sarah Bringezu, Laura Godfrey, David Fiedler, Nadine Therese Gaisa, Susanne Fuessel, +7 more
27citations -
Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue2023 Breast Cancer Research and Treatment article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lise M. van Wijk, Sylvia Vermeulen, Natalja T. ter Haar, Claire J.H. Kramer, Diantha Terlouw, Harry Vrieling, +2 more
10citations -
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
E.M. van Steenis, Stephan C. J. Huijbregts, Cristina Romani, Ninke van Vliet, Allysa M. Dijkstra, M. Estela Rubio‐Gozalbo, +4 more
1citations -
Validation of the 70-gene signature test (MammaPrint) to identify patients with breast cancer aged ≥ 70 years with ultralow risk of distant recurrence: A population-based cohort study2022 Journal of Geriatric Oncology article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Iris Noordhoek, Esther Bastiaannet, Nienke Aafke de Glas, Josien C C Scheepens, Laura J. Esserman, Jelle Wesseling, +7 more
15citations -
bletl - A Python Package for Integrating Microbioreactors in the Design-Build-Test-Learn Cycle2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Michael Osthege, Niklas Tenhaef, Rebecca Zyla, Carolin Müller, Johannes Hemmerich, Wolfgang Wiechert, +2 more
3citations -
Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
María Gallardo‐Gómez, Mar Rodríguez‐Girondo, Núria Planell, Sebastián Morán, Luís Bujanda, Ane Etxart, +7 more
17citations -
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, +15 more
48citations -
Using the SNAP-Tag technology to easily measure and demonstrate apoptotic changes in cancer and blood cells with different dyes2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Cell death mechanisms and regulation Open access
Mira Woitok, Elena Grieger, Olusiji Alex Akinrinmade, Susanne Bethke, Anh Tuân Phạm, Christoph Stein, +4 more
6citations