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Journal of Neuro-Oncology|January 21, 2018
Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumorsGo Hun Seo, Jin-Ho Choi, Yoon-Myung Kim, et al.
Clinical and Experimental Pediatrics|April 22, 2026
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disordersKeun Soo Lee, Seung Hwan Oh, Ja Young Lee, et al.
Scientific Reports|January 28, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani familiesFaiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humansHumera Manzoor, Hafsa Zahid, Christopher A Emerling, et al.
Retina (Philadelphia, Pa.)|June 20, 2023
LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTERAndrew S H Tsai, Eugene Y C Kang, Nan-Kai Wang, et al.
Molecular Genetics & Genomic Medicine|January 21, 2025
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental IsodisomyHane Lee, Dongseok Moon, Rin Khang, et al.
Medicine|May 17, 2018
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrumsGo Hun Seo, Yoon-Myung Kim, Eungu Kang, et al.
Molecular Genetics & Genomic Medicine|January 24, 2024
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean familySeung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, et al.
Genes|May 5, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean CohortYoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|September 15, 2018
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic HypogonadismJa Hye Kim, Go Hun Seo, Gu-Hwan Kim, et al.
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