Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report von Lee, Joon Kee, Oh, Arum

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Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types von Kang, Eungu, Kim, Yoon-Myung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Ra, Young-Shin, Kim, Eun Key, Kim, Heyry, Heo, Sun-Hee, Kim, Gu-Hwan, Osborn, Mark J., Tolar, Jakub, Yoo, Han-Wook, Lee, Beom Hee

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay von Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin

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Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma von Oh, Arum, Lee, Yena, Yoo, Han-Wook, Choi, Jin-Ho

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Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption von Yu, Sae Bit, Lee, Yena, Oh, Arum, Yoo, Han-Wook, Choi, Jin-Ho

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Identification of extremely rare mitochondrial disorders by whole exome sequencing von Seo, Go Hun, Oh, Arum, Kim, Eun Na, Lee, Yeonmi, Park, Jumi, Kim, Taeho, Lim, Young-Min, Kim, Gu-Hwan, Kim, Chong Jai, Yoo, Han-Wook, Kang, Eunju, Lee, Beom Hee

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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14 von Kang, Eungu, Kim, Taeho, Oh, Arum, Yum, Mi-Sun, Keum, Changwon, Yoo, Han-Wook, Lee, Beom Hee

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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency von Lee, Yena, Choi, Jin-Ho, Oh, Arum, Kim, Gu-Hwan, Park, Sook-Hyun, Moon, Jung Eun, Ko, Cheol Woo, Cheon, Chong-Kun, Yoo, Han-Wook

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Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis von Kim, Yoon Myung, Oh, Arum, Kim, Kun-Suk, Yoo, Han-Wook, Choi, Jin-Ho

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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure von Jun, Sujin, Lee, Yena, Oh, Arum, Kim, Gu-Hwan, Seo, Eulju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook

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Two Pediatric Patients with Herbal Medicine-Induced Nephrotic Syndrome von Yang, Sohyoung, Oh, Arum, Ha, Tae-Sun

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An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome von Seo, Go Hun, Oh, Arum, Kang, Minji, Kim, Eun Na, Jang, Ja-Hyun, Kim, Dae Yeon, Kim, Kyung Mo, Yoo, Han-Wook, Lee, Beom Hee

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A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis von Kim, Da Hyun, Heo, Sun Hee, Seo, Go Hun, Oh, Arum, Kim, Taeho, Kim, Gu-Hwan, Yoon, Young Hee, Yoo, Han-Wook, Lee, Beom Hee

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SAT491 Development of Thyroidal Nodule in Congenital Hypothyroid Girl With Thyroid Peroxidase Gene Mutation von Lee, Jisu, Oh, Arum, Han, Heon-Seok

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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE von Seo, Go Hun, Kim, Taeho, Choi, In Hee, Park, Jung‐young, Lee, Jungsul, Kim, Sehwan, Won, Dhong‐gun, Oh, Arum, Lee, Yena, Choi, Jeongmin, Lee, Hajeong, Kang, Hee Gyung, Cho, Hee Yeon, Cho, Min Hyun, Kim, Yoon Jeon, Yoon, Young Hee, Eun, Baik‐Lin, Desnick, Robert J., Keum, Changwon, Lee, Beom Hee

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Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure von Jun, Sujin, Lee, Yena, Oh, Arum, Kim, Gu-Hwan, Seo, Eulju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook

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Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency von Choi, Yunha, Oh, Arum, Lee, Yena, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee

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An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome von Seo, Go Hun, Oh, Arum, Kang, Minji, Kim, Eun Na, Jang, Ja-Hyun, Kim, Dae Yeon, Kim, Kyung Mo, Yoo, Han-Wook, Lee, Beom Hee

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A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia von Park, Hee Sue, Oh, Arum, Keum, Chang Won, Lee, Jisu, Lee, Joon Kee, Son, Bo Ra, Shin, Kyeong Seob, Hahn, Youn-Soo

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A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis von Kim, Da Hyun, Heo, Sun Hee, Seo, Go Hun, Oh, Arum, Kim, Taeho, Kim, Gu-Hwan, Yoon, Young Hee, Yoo, Han-Wook, Lee, Beom Hee

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