Abstracts & Posters
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Characterization of a Balanced Translocation Disrupting SOX9: Implications for Campomelic Dysplasia.
Rekab AN, Frater CH, Morales Corado A. 2025 ACMG Annual Meeting. March 19th 2025. Los Angeles, CA.
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Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms Tuberous Sclerosis Complex in clinically diagnosed patients.
Berger SM, Weyandt J, Richardson M, Mayo C, Morales Corado JA. 2025 ACMG Annual Meeting. March 19th 2025. Los Angeles, CA.
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A natural history study of Sanfilippo syndrome type D: a retrospective data review.
Cameron C, Hochen C, Carroll J, Kim A, Wood J, Chung WK, Morales Corado A. 20th Annual WORLD Symposium. February 8th 2024. San Diego, CA.
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Phenotypic Characterization of the ECHS1 pathogenic variant c.476A>G (p.Q159R): a review of 9 cases.
Morales Corado A, Iglesias A. ociety for the Study of Inborn Errors of Metabolism 2023 Annual
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Hyperleucinosis post-transplant in Maple Syrup Urine Disease: data from another case.
Morales Corado A, Shawhan A, Khonje T, Iglesias A. Society for Inherited Metabolic Disorders 2023 Annual Meeting. March 19th2023. Salt Lake City, UT