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