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PEREZ PALMA, EDUARDO ESTEBAN
Preferred name
PEREZ PALMA, EDUARDO ESTEBAN
Main Affiliation
Email
eduardoperez@udd.cl
ORCID
Scopus Author ID
55981322300
Now showing
1 - 10 of 20
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PublicationStructural mapping of GABRB3 variants reveals genotype–phenotype correlations( 2022)
;Katrine M. Johannesen ;Sumaiya Iqbal ;Milena Guazzi ;Nazanin A. Mohammadi ;Elise Schaefer ;Anne De Saint Martin ;Marie Therese Abiwarde ;Amy McTague ;Roser Pons ;Amelie Piton ;Manju A. Kurian ;Gautam Ambegaonkar ;Helen Firth ;Alba Sanchis-Juan ;Marie Deprez ;Katrien Jansen ;Liesbeth De Waele ;Eva H. Briltra ;Nienke E. Verbeek ;Marjan van Kempen ;Walid Fazeli ;Pasquale Striano ;Federico Zara ;Gerhard Visser ;Hilde M.H. Braakman ;Martin Haeusler ;Miriam Elbracht ;Ulvi Vaher ;Thomas Smol ;Johannes R. Lemke ;Konrad Platzer ;Joanna Kennedy ;Karl Martin Klein ;Ping Yee Billie Au ;Kimberly Smyth ;Julie Kaplan ;Morgan Thomas ;Malin K. Dewenter ;Argirios Dinopoulos ;Arthur J. Campbell ;Dennis Lal ;Damien Lederer ;Vivian W.Y. Liao ;Philip K. Ahring ;Rikke S. MøllerElena GardellaScopus© Citations 12 2 -
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PublicationGenomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins( 2022)
;Sumaiya Iqbal ;Tobias Brünger ;David Hoksza ;Arthur J. Campbell ;Mark J. Daly ;Patrick MayDennis Lal5 -
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PublicationGenomic analysis in Chilean pediatric patients with drug-resistant epilepsy( 2023)
;Venegas, V. ;Villaman, C. ;Zakharova, A. ;Berrios, D. ;Lagos, C. ;Cavada, G. ;Carrasco, X. ;Manriquez, M.Buron, V.12 -
PublicationCopy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders( 2022)
;Lisa-Marie Niestroj ;Miguel Inca-MartÃnez ;Camilo Villaman ;Dennis LalIgnacio Mata43 1 -
PublicationMolecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants( 2024)
;Nisha Bhattarai ;Ludovica Montanucci ;Bruenger, Tobias ;Martin, William ;Smith, Iris N. ;Cheng, Feixiong ;Charis Eng ;Helbig, Ingo ;Moller, Rikkie S ;Andreas Brunklaus ;Stephanie SchorgeDennis Lal6