about
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersThe Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development.Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafishELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice.A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.Structural basis of RIP2 activation and signalingLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyMitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assemblyR-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors
P50
Q36695811-3F647494-C663-4837-BA29-F5C4CAF5C12BQ36879232-AE6075C8-20CC-4F4A-88F9-3D2838466973Q37297289-6785CAFC-8E37-4B8D-95C7-841F7CAEC498Q46303711-7CD9B7A8-9A33-4261-98BA-591ACA8939B9Q54963859-74B9F4C5-C0A2-4454-BB34-2E801EFE2D9CQ59327258-2322B52F-4591-49FA-AE32-E9B1AE4261AAQ89454665-0A92CD5E-9D20-45AB-AD89-FC7707DD00C7Q90245532-1EA60852-E21D-4A6F-B6C8-1B73003BCCC5Q93175769-B59F8398-F037-468F-AB35-DF2734AE4330
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Bruno Reversade
@en
Bruno Reversade
@nl
type
label
Bruno Reversade
@en
Bruno Reversade
@nl
prefLabel
Bruno Reversade
@en
Bruno Reversade
@nl
P31
P496
0000-0002-4070-7997