Last Updated: 09/26/2026
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Found 8 publications
EpiSignature Utility for Variant of Uncertain Significance Reclassification in an Apparently Atypical Presentation of HNRNPU-Related Neurodevelopmental Disorder: A Case Report.
Journal: Molecular syndromology
Published: September 24, 2024
ARF1-related disorder: phenotypic and molecular spectrum.
Journal: Journal of medical genetics
Published: August 09, 2022
Eye and ocular adnexa manifestations of MED12-related disorders.
Journal: Ophthalmic genetics
Published: October 21, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Journal: JAMA neurology
Published: August 30, 2021
Ophthalmic abnormalities in Wieacker-Wolff syndrome.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: August 18, 2021
Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review".
Journal: Case reports in genetics
Published: March 25, 2021
Corrigendum to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review".
Journal: Case reports in genetics
Published: October 29, 2020
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.
Journal: Case reports in genetics
Published: February 05, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026