Publications by authors named "Scarlet Witting"

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Exploring the Spectrum of Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro, Francisco Javier López González, Rocío Sánchez Carpintero, Scarlet Witting

Mov Disord Clin Pract· November 2023

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Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra

Mol Syndromol· October 2023

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Super-refractory status epilepticus related to COVID-19 in a paediatric patient with PRRT2 mutation.
Diane Vergara, Carla Rubilar, Scarlet Witting, Mónica Troncoso, Roberto Caraballo

Epileptic Disord· December 2021

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Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in gene Variant.
Mónica Troncoso, Fernanda Balut, Scarlet Witting, Carla Rubilar, Jorge Carrera

Clin Case Rep· May 2021

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Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Romina Kohan, María Noelia Carabelos, Winnie Xin, Katherine Sims, Norberto Guelbert, Scarlet Witting

Gene· March 2013

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