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1 |
First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea
Eun Young Bae, Yoonyoung Yi, Han Hyuk Lim, Jiwon M. Lee, Bongjin Lee, Seung Yeon Kim, Yoo-Mi Kim
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2 |
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
Young-Lim Shin, You Na Park, Mi-Ae Jang
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3 |
Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park
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4 |
Experience with reversal of a neuromuscular block with sugammadex in a child with Prader–Willi syndrome - A case report -
Tae-Yun Sung, Taehoon Kang, Choon-kyu Cho, Hee Uk Kwon, Po-Soon Kang, Young Seok Jee
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5 |
Anesthetic considerations in a child with Sotos syndrome -A case report-
Joo-Young Chung, Gahyun Kim, Ju-Hun Park, Hyen Kyu Choi, Byoung Hark Park, Mi Young Choi, Jong-Sool Kim
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6 |
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
Eun Hye Lee, Mi-Sun Yum, Seong Jong Park, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo, Tae-Sung Ko
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7 |
X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
Ji Hyun Jeon, Ran Namgung, Min Soo Park, Kook In Park, Chul Lee, Jin Sung Lee, Se Hoon Kim
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