EH
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy | European journal of paediatric neurology | 2025 | 29 | 1 | |||
| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine | 2024 | 13 | 11 | |||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | 2023 | 179 | 96 | |||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | 2021 | 309 | 358 | |||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | 2021 | 165 | 87 | |||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | 2016 | 742 | 277 | |||
| Blockade of beta1 integrin-laminin-5 interaction affects spreading and insulin secretion of rat beta-cells attached on extracellular matrix | Diabetes | 2006 | 624 | 0 | |||
| Inhibition of calpain blocks pancreatic beta-cell spreading and insulin secretion | American journal of physiology: endocrinology and metabolism | 2005 | 617 | 294 | |||
| Activation of NF-kappaB by extracellular matrix is involved in spreading and glucose-stimulated insulin secretion of pancreatic beta cells | The Journal of biological chemistry | 2005 | 533 | 197 | |||
| Extracellular matrix-induced signaling pathways and pancreatic beta cell survival | 2005 | 1,244 | 886 | ||||
| Extracellular matrix protects pancreatic beta-cells against apoptosis: role of short- and long-term signaling pathways | Diabetes | 2004 | 639 | 682 | |||
| Cingulin Contains Globular and Coiled-coil Domains and Interacts with ZO-1, ZO-2, ZO-3, and Myosin | The Journal of Cell Biology | 1999 | 313 | 257 | |||
| Xenopus laevis occludin: identification of in vitro phosphorylation sites by protein kinase CK2 and association with cingulin | European Journal of Biochemistry | 1999 | 248 | 0 |
