Fernando Kok

15PUBLICATIONS
88CO-AUTHORS
NeonatologyAdolescent healthInfant and child healthGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (15)

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

|Apr 22, 2026
Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures.

|Jun 18, 2025
Time to Diagnosis of Duchenne Muscular Dystrophy Patients With or Without Development Delay.

Marco Antônio Veloso de Albuquerque, Karla Danielle Lima, Fernando Kok

|Jun 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro

|May 13, 2025
A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.

Caio Robledo D'Angioli Costa Quaio, Thiago Yoshinaga Tonholo Silva, Orlando G Barsottini

|May 19, 2024
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.

Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira

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Frequent Collaborators

3 joint publications

André Pessoa

3 joint publications

Matheus Augusto Araújo Castro

2 joint publications

Jonas A Saute

2 joint publications

Thiago Yoshinaga Tonholo Silva