Last Updated: 09/26/2026
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Found 14 publications
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
Journal: PharmacoEconomics
Published: April 17, 2025
Hypersensitivity Reaction and a Single-Bag Rapid Desensitization to Idursulfase.
Journal: American journal of medical genetics. Part A
Published: January 27, 2025
Estimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Journal: Health and quality of life outcomes
Published: August 01, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Journal: Brain : a journal of neurology
Published: October 26, 2023
Patient selection considerations for AADC deficiency gene therapy.
Journal: Annals of the Child Neurology Society
Published: June 24, 2023
ChatGPT: a pioneering approach to complex prenatal differential diagnosis.
Journal: American journal of obstetrics & gynecology MFM
Published: May 01, 2023
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.
Journal: Prenatal diagnosis
Published: April 17, 2023
Clinical experience: Outcomes of mesenchymal stem cell transplantation in five stroke patients.
Journal: Frontiers in medicine
Published: September 23, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 11, 2022
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Journal: American journal of human genetics
Published: December 07, 2020
A Novel Case of Marfan Syndrome in an Infant With Hypoplastic Left Heart Syndrome.
Journal: World journal for pediatric & congenital heart surgery
Published: September 10, 2019
Last Updated: 09/26/2026