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Annals of Pediatric Endocrinology & Metabolism|July 21, 2015
Turner syndrome presented with tall stature due to overdosage of the SHOX geneGo Hun Seo, Eungu Kang, Ja Hyang Cho, et al.Clinical Genetics|October 30, 2023
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP geneJoshua Chin Ern Ooi, Amelia Azman, Mei-Yan Chan, et al.Journal of Clinical Immunology|October 20, 2025
Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient PatientEmily S J Edwards, Josh Chatelier, Gregory I Snell, et al.Scientific Reports|June 22, 2024
Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencingMiriam E Reyna-Fabián, Liliana Fernández-Hernández, Sergio Enríquez-Flores, et al.The Journal of Allergy and Clinical Immunology|May 21, 2023
Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variantsEmily S J Edwards, Samar Ojaimi, James Ngui, et al.Korean Journal of Pediatrics|February 20, 2016
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delayGo Hun Seo, Ja Hye Kim, Ja Hyang Cho, et al.Frontiers in Genetics|June 2, 2022
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in LebanonLama Jaffal, Hanane Akhdar, Hawraa Joumaa, et al.BMC Medical Genomics|October 31, 2023
Genetic heterogeneity of cardiomyopathy and its correlation with patient careMi Jin Kim, Seulgi Cha, Jae Suk Baek, et al.European Journal of Human Genetics : EJHG|December 3, 2024
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approachesMert Karakaya, Iman Ragab, Vera Riehmer, et al.Journal of Korean Medical Science|January 1, 2025
Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in KoreaSeo-Yeon Gwak, Jiwon Seo, Go Hun Seo, et al.Pageof 11