Papers matching “single nucleotide polymorphism array” 27
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Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study2022 Frontiers in Immunology article Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Khaled Atmar, Claudia A. L. Ruivenkamp, Hélène L. Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, +6 more
7citations -
Protein and mRNA Expression in Uveal Melanoma Cell Lines Are Related to GNA and BAP1 Mutation Status2024 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Maria Chiara Gelmi, Arnoud H. de Ru, Peter A. van Veelen, Rayman T.N. Tjokrodirijo, Marc‐Henri Stern, Alexandre Houy, +7 more
7citations -
LARGE DELETIONS IN THE F8 GENE PREDICT IMMUNE TOLERANCE INDUCTION FAILURE IN PEOPLE WITH SEVERE HEMOPHILIA A2024 Hematology Transfusion and Cell Therapy article Medicine Hemophilia Treatment and Research Open access
Ilja Oomen, Linda Broer, RM Camelo, LEM Carvalho, Ilenia Lorenza Calcaterra, Manuel D Carcao, +15 more
0citations -
A Genome‐Wide Association Study of Endoxifen Serum Concentrations and Adjuvant Tamoxifen Efficacy in Early‐Stage Breast Cancer Patients2024 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Anabel Sanchez‐Spitman, Stefan Böhringer, Vincent Olaf Dezentjé, Hans A. J. Gelderblom, Jesse Joachim Swen, Henk‐Jan Guchelaar
11citations -
Large deletions in the F8 gene predict immune tolerance induction failure in people with severe hemophilia A2025 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access
Ilja Oomen, Amal Abdi, Linda Broer, Ricardo Mesquita Camelo, Fábia Michelle Rodrigues de Araújo Callado, Luany Elvira Mesquita Carvalho, +26 more
1citations -
ABS0141 SYSTEMATIC REVIEW AND INDEPENDENT VALIDATION OF GENETIC FACTORS OF RADIOGRAPHIC OUTCOME IN RHEUMATOID ARTHRITIS IDENTIFIES A GENOME-WIDE ASSOCIATION WITH CARD92025 Annals of the Rheumatic Diseases conference-abstract Medicine Rheumatoid Arthritis Research and Therapies Open access
Seema Sharma, Ryan Malcolm Hum, Nisha Nair, Lysette Marshall, A. Storrie, John Bowes, +9 more
0citations -
Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Peitao Wu, Denis Rybin, Lawrence F. Bielak, Mary Furlan Feitosa, Nora Franceschini, Yize Li, +52 more
45citations -
From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C192023 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Lonneke J. Graansma, Qinglian Zhai, Loes Busscher, Roberta Menafra, Redmar R. van den Berg, Susan L. Kloet, +1 more
17citations -
Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system2023 Molecular Neurodegeneration article Immunology and Microbiology Immune responses and vaccinations Open access
Annieck M. Diks, Cristina Teodósio, Bas de Mooij, Rick J. Groenland, Brigitta A. E. Naber, Inge F. de Laat, +8 more
14citations -
Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels2020 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Zhe Wang, Han Chen, Traci M. Bartz, Lawrence F. Bielak, Daniel I. Chasman, Mary Furlan Feitosa, +33 more
12citations -
Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia
Edwin Quinten, Julieta Sepúlveda-Yáñez, Marvyn T. Koning, Janneke A. Eken, Dietmar Pfeifer, Valeri Nteleah, +15 more
11citations -
Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs2020 Birth Defects Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pauline C. Schut, Erwin Brosens, Tom J. M. Van Dooren, Frietson F Galis, Clara M. A. ten Broek, Inge M. M. Baijens, +6 more
6citations -
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)2025 Ophthalmic Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jonathan Hensman, Mary J. van Schooneveld, Roselie M.H. Diederen, Astrid S. Plomp, Cansu de Muijnck, Jacoline B. ten Brink, +3 more
1citations -
mRNA Expression Level of ALK in Neuroblastoma Is Associated with Histological Subtype, ALK Mutations and ALK Immunohistochemical Protein Expression2024 Journal of Molecular Pathology article Medicine Neuroblastoma Research and Treatments Open access
Rixt S. Bruinsma, Marta F. Fiocco, Wendy W.J. de Leng, Lennart A. Kester, Karin P.S. Langenberg, Godelieve A.M. Tytgat, +4 more
1citations -
Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response2022 Clinical and Translational Allergy article Medicine Asthma and respiratory diseases Open access
Elise M. A. Slob, Alen Faiz, Jos van Nijnatten, Susanne J. H. Vijverberg, Cristina Longo, Merve Kutlu, +29 more
1citations