Kristy Iskandar

Yogyakarta, YO 55281, Indonesia

Last Updated: 09/26/2026

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Found 51 publications

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.

Journal: Neurogenetics
Published: May 22, 2026

Quality of life of Hirschsprung disease patients with a stoma.

Quality of life of Hirschsprung disease patients with a stoma.

Journal: The Medical journal of Malaysia
Published: March 31, 2026

Dysregulation of GDNF and GFRα1 expression in multifactorial Hirschsprung disease.

Dysregulation of GDNF and GFRα1 expression in multifactorial Hirschsprung disease.

Journal: BMC research notes
Published: February 15, 2026

Does surgical approach affect Hirschsprung-associated enterocolitis risk? A comparison between transanal Swenson-like and endorectal pull-throughs.

Does surgical approach affect Hirschsprung-associated enterocolitis risk? A comparison between transanal Swenson-like and endorectal pull-throughs.

Journal: PloS one
Published: August 24, 2025

Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.

Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.

Journal: The Medical journal of Malaysia
Published: July 31, 2025

ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.

ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.

Journal: Neurogenetics
Published: July 28, 2025

Diagnostic Challenges in Detecting Rubella Viral RNA in Cases of Congenital Rubella Syndrome Using RT-PCR in the Era of Elimination.

Diagnostic Challenges in Detecting Rubella Viral RNA in Cases of Congenital Rubella Syndrome Using RT-PCR in the Era of Elimination.

Journal: The Pediatric infectious disease journal
Published: April 29, 2025

Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting.

Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting.

Journal: Neurogenetics
Published: April 22, 2025

Exome sequencing facilitates personalized treatment in developmental and epileptic encephalopathy patients: transforming current clinical practice in Indonesia.

Exome sequencing facilitates personalized treatment in developmental and epileptic encephalopathy patients: transforming current clinical practice in Indonesia.

Journal: The Lancet regional health. Southeast Asia
Published: October 11, 2024

Outcomes of children with long-segment and total colon Hirschsprung disease following pull-through.

Outcomes of children with long-segment and total colon Hirschsprung disease following pull-through.

Journal: The Medical journal of Malaysia
Published: August 31, 2024

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: February 09, 2024

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.

Journal: F1000Research
Published: November 13, 2023
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Last Updated: 09/26/2026