Last Updated: 09/26/2026
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Found 19 publications
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2023
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Journal: Orphanet journal of rare diseases
Published: April 21, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Journal: Brain : a journal of neurology
Published: August 26, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Journal: Brain : a journal of neurology
Published: July 15, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 23, 2020
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: January 26, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Journal: American journal of medical genetics. Part A
Published: September 26, 2019
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.
Journal: Epilepsia
Published: March 27, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Journal: Molecular genetics and metabolism
Published: February 06, 2018
Last Updated: 09/26/2026