Not finding it? Sign in to also search OpenAlex live.
-
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Epilepsy research and treatment Open access
Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura C. Anderson, John Szwec, +13 more
2citations -
Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for ARVC: initial suspicion based on the 12-lead electrocardiogram
Jarieke C. Hoogendoorn, Laurens P. Bosman, Jeroen F. van der Heijden, A. Wilde, Sing‐Chien Yap, Anneline S.J.M. te Riele, +1 more
0citations -
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium2022 Hereditary Cancer in Clinical Practice article Medicine Genetic factors in colorectal cancer Open access
Pål Møller, Toni T. Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez–Valentin, Lone Sunde, +94 more
63citations -
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions2021 Journal of Medicinal Chemistry article Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases Open access
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Šolman, Elisabetta Flex, Viviana Claudia Canale, +22 more
52citations -
The impact of coding germline variants on contralateral breast cancer risk and survival2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anna Morra, Nasim Mavaddat, Taru Muranen, Thomas U. Ahearn, Jamie Allen, Irene Louise Andrulis, +90 more
28citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Lorenzo Loberti, Loredaria Adamo, Giulia Casamassima, Anne Destrèe, Nicola Brunetti‐Pierri, David Geneviève, +65 more
8citations -
Machine Learning-Identified Potent Antimicrobial Peptides Against Multidrug-Resistant Bacteria and Skin Infections2025 Antibiotics article Immunology and Microbiology Antimicrobial Peptides and Activities Open access
Gizem Babuççu, Nikitha Vavilthota, Colin Bournez, Leonie de Boer, Robert A. Cordfunke, Peter H. Nibbering, +4 more
6citations -
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth2020 Journal of Clinical Research in Pediatric Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Steven Ghanny, Aliza Zidell, Helio F. Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan Maarten Wit, +1 more
6citations -
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution2025 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Venda Mangkusaputra, A.G. Murachelli, Zhengzhou Yu, Roberta Menafra, Anne Schreuder, Susan L. Kloet, +2 more
5citations -
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants2025 British Journal of Dermatology article Biochemistry, Genetics and Molecular Biology Skin and Cellular Biology Research Open access
Henriette Jopp, A Kraft, Bernd Hoffmann, Rudolf Merkel, M. Bishr Omary, Cristina Has, +2 more
3citations -
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting its Protein-Protein Interactions2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases Open access
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Šolman, Elisabetta Flex, Viviana Claudia Canale, +22 more
2citations -
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy2025 Brain Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Manuela D’Alessandro, Daniel Bamborschke, Margret Helene Bülow, Özkan Özdemir, Hülya‐Sevcan Daimagüler, Verena Brümmer, +8 more
2citations -
Branched tetrameric lactoferricin peptides modified with diaminopropionic acid exhibit potent antimicrobial and wound-healing activities2025 Frontiers in Pharmacology article Immunology and Microbiology Antimicrobial Peptides and Activities Open access
Nikitha Vavilthota, Gizem Babuççu, Robert A. Cordfunke, Leonie de Boer, Payal P. S. Balraadjsing, Bouke K. H. L. Boekema, +3 more
1citations -
T cell correction pipeline for Inborn Errors of Immunity2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Katariina Mamia, Solrun Kolbeinsdottir, Zhuokun Li, Kornel Labun, Anna Zofia Komisarczuk, Salla Keskitalo, +22 more
1citations -
Genetic Patterns in Familial Thoracic Aortic Aneurysm Disease2026 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa C. Harling, Mohammad A. Zafar, Mah I Kan Changez, Dimitra Papanikolaou, Nafiye Busra Celik, Nimrat Grewal, +1 more
0citations