検索結果 - Ok‐Hwa Kim

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  1. 1
    Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene

    Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene 著者: Kohji Miura, Ok‐Hwa Kim, Hey Ran Lee, Noriyuki Namba, Toshimi Michigami, Won Joon Yoo, In Ho Choi, Keiichi Ozono, Tae‐Joon Cho

    出版事項 2013
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    Artigo
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  2. 2
    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose 著者: Ralph S. Lachman, Barbara K. Burton, Lorne A. Clarke, Scott A. Hoffinger, Shiro Ikegawa, Dong‐Kyu Jin, Hiroki Kano, Ok-Hwa Kim, Christina Lampe, Nancy J. Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K. White

    出版事項 2014
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    Artigo
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  3. 3
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia 著者: Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    出版事項 2015
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    Artigo
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  4. 4
    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations 著者: Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga

    出版事項 2010
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    Artigo
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  5. 5
    A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

    A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V 著者: Tae‐Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song, Kyung Jin Kim, Daehyun Jeon, Gene Lee, Ha-Neui Kim, Hyeran Lee, Hye-Hyun Eom, Zhuang Min Lee, Ok-Hwa Kim, Woong‐Yang Park, Sung Sup Park, Shiro Ikegawa, Won Joon Yoo, In Ho Choi, Jung‐Wook Kim

    出版事項 2012
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    Artigo
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  6. 6
    Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

    Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 著者: Julie Hoover‐Fong, Nara Sobreira, Julie A. Jurgens, Peggy Modaff, Carrie L. Blout Zawatsky, Ann B. Moser, Ok-Hwa Kim, Tae‐Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong‐Kyu Jin, Hiroshi Kitoh, Woong‐Yang Park, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Richard M. Pauli

    出版事項 2014
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    Artigo
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  7. 7
    Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

    Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 著者: Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hyeran Lee, Jiwoong Kim, Tae Hoon Kang, Myung-Eui Seo, San‐Duk Yang, Do-Hwan Kim, Seungbok Lee, Jong‐Il Kim, Jeong‐Sun Seo, Ji‐Yeob Choi, Daehee Kang, Dongsup Kim, Woong‐Yang Park, Tae‐Joon Cho

    出版事項 2011
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    Artigo
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  8. 8
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations 著者: Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed Al Balwi, Ok-Hwa Kim, Tae‐Joon Cho, Gye‐Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniené, Ikuyo Kou, Masahiro Nakajima, H Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    出版事項 2016
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    Artigo
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  9. 9
    Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

    Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome 著者: Mi‐Ae Jang, Eun Kyoung Kim, Hesung Now, Nhung Nguyen, Woo Jong Kim, Joo‐Yeon Yoo, Jinhyuk Lee, Yun‐Mi Jeong, Cheol‐Hee Kim, Ok‐Hwa Kim, Seongsoo Sohn, Seong-Hyeuk Nam, Yoojin Hong, Yong‐Seok Lee, Sung‐A Chang, Shin Yi Jang, Jong‐Won Kim, Myung‐Shik Lee, So Young Lim, Ki-Sun Sung, Ki‐Tae Park, Byoung Joon Kim, Joo‐Heung Lee, Duk‐Kyung Kim, Changwon Kee, Chang‐Seok Ki

    出版事項 2015
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    Artigo
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  10. 10
    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia 著者: Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eun‐Kyung Lee, Jieun Seo, Hyeran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Neethukrishna Kausthubham, Gandham SriLakshmi Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs, Grant S. Stewart, Eun Young Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han‐Woong Lee, Yonghwan Kim, Tae‐Joon Cho

    出版事項 2019
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    Artigo
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