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1 . Academic Journal
Editorial: SLC6A1: the past, present and future
저자
by
Katrine M. Johannesen
;
Eduardo Pérez-Palma
;
Guido Rubboli
.
소스
Frontiers in Neuroscience, Vol 17 (2023)
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5 . Academic Journal
P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
저자
by
Yuri Zarate
;
Katherine Bosanko
;
Amrit Kannan
;
Ashlen Thomason
;
Beth Nutt
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100397- (2023)
Full Text (ScienceDirect)
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7 . Academic Journal
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
저자
by
Álvaro Beltrán-Corbellini
;
Ángel Aledo-Serrano
;
Rikke S. Møller
;
Eduardo Pérez-Palma
;
Irene García-Morales
, et al.
소스
Frontiers in Neurology, Vol 13 (2022)
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7 . Academic Journal
Incidence and prevalence of major epilepsy-associated brain lesions
저자
by
Javier A. López-Rivera
;
Victoria Smuk
;
Costin Leu
;
Gaelle Nasr
;
Deborah Vegh
, et al.
소스
Epilepsy & Behavior Reports, Vol 18, Iss , Pp 100527- (2022)
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7 . Academic Journal
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
저자
by
Dennis Lal
;
Patrick May
;
Eduardo Perez-Palma
;
Kaitlin E. Samocha
;
Jack A. Kosmicki
, et al.
소스
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
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7 . Academic Journal
The role of sodium channels in sudden unexpected death in pediatrics
저자
by
Anne M. Rochtus
;
Richard D. Goldstein
;
Ingrid A. Holm
;
Catherine A. Brownstein
;
Eduardo Pérez‐Palma
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
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7 . Academic Journal
Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons
저자
by
Eduardo Pérez-Palma
;
Víctor Andrade
;
Mario O. Caracci
;
Bernabé I. Bustos
;
Camilo Villaman
, et al.
소스
Neural Plasticity, Vol 2016 (2016)
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7 . Academic Journal
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
저자
by
Eduardo Pérez-Palma
;
Bernabé I Bustos
;
Camilo F Villamán
;
Marcelo A Alarcón
;
Miguel E Avila
, et al.
소스
PLoS ONE, Vol 9, Iss 4, p e95413 (2014)
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7 .
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
저자
by
Sumaiya Iqbal
;
Tobias Brünger
;
Eduardo Pérez-Palma
;
Marie Macnee
;
Andreas Brunklaus
, et al.
소스
Brain
. 146:519-533
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7 .
CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
저자
by
Marie Macnee
;
Eduardo Pérez-Palma
;
Tobias Brünger
;
Chiara Klöckner
;
Konrad Platzer
, et al.
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