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Publications by Fernando Kok

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Two Distinct Regions in 2q24.2-Q24.3 Associated With Idiopathic Epilepsy

English

PUS3 Mutations Are Associated With Intellectual Disability, Leukoencephalopathy, and Nephropathy

Neurology: Genetics

English

Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation With Prominent Ataxia

Movement Disorders Clinical Practice

English

Association of Optic Atrophy and Type 1 Diabetes: Clinical Hallmarks for the Diagnosis of Wolfram Syndrome

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English

The Prevalence of Mitochondrial DNA Mutations in Leigh Syndrome in a Brazilian Series

Medical Express

English

Does MRS Lactate Peak Correlate With Lactate in the CSF and Blood?

Journal of Pediatric Neuroradiology

English

Quantification of Functional Abilities in Rett Syndrome: A Comparison Between Stages III and IV

Neuropsychiatric Disease and Treatment

English

A New Form of Autosomal Dominant Limb-Girdle Muscular Dystrophy (LGMD1G) With Progressive Fingers and Toes Flexion Limitation Maps to Chromosome 4p21

European Journal of Human Genetics

English