Hyunwoo Bae
Daegu, Republic of Korea
Last Updated: 09/26/2026
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Found 9 publications
Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant.
Journal: Children (Basel, Switzerland)
Published: March 18, 2026
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Journal: Journal of human genetics
Published: June 14, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Journal: Journal of human genetics
Published: September 05, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Journal: Journal of human genetics
Published: February 23, 2024
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Journal: Molecular genetics & genomic medicine
Published: January 24, 2024
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Journal: American journal of hematology
Published: December 19, 2023
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Journal: American journal of human genetics
Published: June 11, 2022
Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy.
Journal: Journal of clinical neurology (Seoul, Korea)
Published: January 19, 2022
Showing 1-9 of 9
Last Updated: 09/26/2026