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Showing 1–7 of 7 results

Advanced filters: Author: Emmanuel Scalais Clear advanced filters

EFFECT OF PHENOBARBITAL ON CEREBRAL BLOOD FLOW AND TOTAL BRAIN OXYGEN CONSUMPTION IN NEWBORN PIGLETS

Emmanuel Scalais
Kae Beharry
Jacob V Aranda
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 309
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou
Carolyn M. Sue
Eric A. Schon
Research01 Nov 1999
Nature Genetics

Volume: 23, P: 333-337
Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

Boel de Paepe
Joél Smet
Rudy van Coster
Research01 Jan 2006
Pediatric Research

Volume: 59, P: 2-6
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

Wenjun Zhou
Yanlin He
Zheng Sun
Amendments and Corrections20 Jun 2019
Nature Neuroscience

Volume: 22, P: 1533
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

Zhou et al. show that NCORs regulate memory and synaptic plasticity through a GABAergic hypothalamus–hippocampus projection in mice, and that variants in NCOR1 and NCOR2 are linked to intellectual disability and neurodevelopmental defects in humans.

Wenjun Zhou
Yanlin He
Zheng Sun
Research21 Jan 2019
Nature Neuroscience

Volume: 22, P: 205-217
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faundes
Stephanie Goh
Siddharth Banka
ResearchOpen Access05 Mar 2021
Genetics in Medicine

Volume: 23, P: 1202-1210
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Stefanie Brock
Katrien Stouffs
Anna C. Jansen
ResearchOpen Access30 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 1132-1142