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| 1 |
두 명의 X-연관 지적 장애 환자에서 발견된 OPHN1 엑손 1, 2 결실의 국내 첫 증례
Kyoung Bo Kim, Soyoung Lee, Do-Hoon Kim
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| 2 |
Endoscopic balloon dilations for strictures of rectum, ileocecal valve and duodenum in a patient with X-linked inhibitor of apoptosis deficiency: a case report
Shinsuke Otagiri, Takehiko Katsurada, Kensuke Sakurai, Junichi Sugita, Naoya Sakamoto
Intest Res.2022;20(2):274-277. Published online 2022 February 8
DOI: http://dx.doi.org/10.5217/ir.2021.00029
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| 3 |
Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis
Jun Myeong Yun, Kyung Sun Na, Myung Shin Kim, Hyun Seung Kim, Hyung Bin Hwang
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| 4 |
Dental management of patients with X-linked hypophosphatemia
Bin-Na Lee, Hye-Yoon Jung, Hoon-Sang Chang, Yun-Chan Hwang, Won-Mann Oh
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| 5 |
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
Noo Ri Lee, Na Young Yoon, Minyoung Jung, Ji-Yun Kim, Seong Jun Seo, Hye-young Wang, Hyeyoung Lee, Young Bae Sohn, Eung Ho Choi
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| 6 |
Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
Joon Won Kang, Sang Mi Lee, Kyo Yeon Koo, Young-Mock Lee, Hyo Suk Nam, Zhejiu Quan, Hoon-Chul Kang
Yonsei Med J.2014;55(4):1157-1160. Published online 2014 June 13
DOI: http://dx.doi.org/10.3349/ymj.2014.55.4.1157
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| 7 |
Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test
Ji Won Koh, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu
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| 8 |
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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| 9 |
The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy
Jiho Jang, Han-Soo Kim, Joon Won Kang, Hoon-Chul Kang
Yonsei Med J.2013;54(1):246-252. Published online 2012 November 28
DOI: http://dx.doi.org/10.3349/ymj.2013.54.1.246
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| 10 |
X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
Hyejin Ryu, Joonhong Park, Hyojin Chae, Myungshin Kim, Yonggoo Kim, In-Young Ok
Ann Lab Med.2012;32(3):234-237. Published online 2012 April 18
DOI: http://dx.doi.org/10.3343/alm.2012.32.3.234
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| 11 |
Expression of X-linked Inhibitor of Apoptosis Protein in Neoplastic Thyroid Disorder
Ji Hye Yim, Jong Ho Yoon, Sun A Kim, Won Gu Kim, Min Ji Jeon, Ji Min Han, Tae Yon Sung, Tae Yong Kim, Won Bae Kim, Suck Joon Hong, Young Kee Shong, Gyungyub Gong
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| 12 |
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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| 13 |
The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Ki Wook Yun, Soo Ahn Chae, Jung Ju Lee, Sin Weon Yun, Byoung Hoon Yoo, In Seok Lim, Eung Sang Choi, Mi-Kyung Lee
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| 14 |
Overexpression of X-linked Inhibitor of Apoptosis Protein (XIAP) is an Independent Unfavorable Prognostic Factor in Childhood de Novo Acute Myeloid Leukemia
Ki Woong Sung, Jaewon Choi, Yu Kyeong Hwang, Sang Jin Lee, Hee-Jin Kim, Ju Youn Kim, Eun Joo Cho, Keon Hee Yoo, Hong Hoe Koo
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| 15 |
Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis
Jong Joo Lee, Jeong Hun Kim, So Yeon Kim, Sung Sup Park, Young Suk Yu
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| 16 |
Fragile site X chromosomes in mentally retarded boys
Hyung Ro Moon, Shin Yong Moon
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| 17 |
Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia
Hee-Suk Choung, Hee-Jin Kim, Chul Won Jung, Sun-Hee Kim
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| 18 |
PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
Hae-Ryong Song, Joo-Won Park, Dae-Yeon Cho, Jae Hyuk Yang, Hye-Ran Yoon, Sung-Chul Jung
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| 19 |
X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
Hyun-Jung Cho, Mee-Yong Shin, Kang-Mo Ahn, Sang Il Lee, Hee-Jin Kim, Chang-Seok Ki, Jong-Won Kim
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| 20 |
A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sung Chul Lee, Oh Woong Kwon
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