Resultats de la cerca - Tae‐Joon Cho
- Mostrar 1 - 19 resultats de 19
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Angiogenesis and Mineralization During Distraction Osteogenesis per In Ho Choi, Chin Youb Chung, Tae‐Joon Cho, Won Joon Yoo
Publicat 2002Revisão -
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Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene per Kohji Miura, Ok‐Hwa Kim, Hey Ran Lee, Noriyuki Namba, Toshimi Michigami, Won Joon Yoo, In Ho Choi, Keiichi Ozono, Tae‐Joon Cho
Publicat 2013Artigo -
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Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia per Ravi Savarirayan, Judith Pratt Rossiter, Julie Hoover‐Fong, Melita Irving, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha S. Spencer, Klane K. White
Publicat 2018Revisão -
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Best practices in peri‐operative management of patients with skeletal dysplasias per Klane K. White, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Julie Hoover‐Fong, Melita Irving, William G. Mackenzie, Shawn E. Kamps, Cathleen Raggio, Gregory J. Redding, Samantha S. Spencer, Ravi Savarirayan, Mary C. Theroux
Publicat 2017Artigo -
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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia per 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
Publicat 2015Artigo -
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Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations per 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
Publicat 2010Artigo -
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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V per 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
Publicat 2012Artigo -
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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy per 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
Publicat 2014Artigo -
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Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP) per Edward C. Hsiao, Maja Di Rocco, Amanda Cali, Michael Zasloff, Mona Al Mukaddam, Robert J. Pignolo, Zvi Grunwald, Coen Netelenbos, Richard Keen, Geneviève Baujat, Matthew A. Brown, Tae‐Joon Cho, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Rolf Morhart, Christiaan Scott, Keqin Zhang, Robert J. Diecidue, Clive Friedman, Frederick S. Kaplan, Elisabeth M. W. Eekhoff
Publicat 2018Revisão -
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Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type per 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
Publicat 2011Artigo -
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations per 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
Publicat 2016Artigo -
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Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles per Elisabeth M. W. Eekhoff, Ruben D. de Ruiter, Bernard J. Smilde, Ton Schoenmaker, Teun J. de Vries, Coen Netelenbos, Edward C. Hsiao, Christiaan Scott, Nobuhiko Haga, Zvi Grunwald, Carmen L. De Cunto, Maja Di Rocco, Patricia Delai, Robert J. Diecidue, Vrisha Madhuri, Tae‐Joon Cho, Rolf Morhart, Clive Friedman, Michael Zasloff, Gerard Pals, Jae‐Hyuck Shim, Guangping Gao, Frederick S. Kaplan, Robert J. Pignolo, Dimitra Micha
Publicat 2022Revisão -
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype per Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Christa M. de Geus, Hans‐Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C. M. Hennekam, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, David O. Sillence, Andrea Superti‐Furga, Hermine E. Veenstra‐Knol, Dagmar Wieczorek, Louise C. Wilson, David Markie, Stephen P. Robertson
Publicat 2017Artigo -
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia per Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins, Aideen M. McInerney‐Leo, Paul Leo, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Hans-Christoph Duba, Elaine Fletcher, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, Andrea Superti‐Furga, Irma Veenstra-Knol, Dagmar Wieczorek, Louise C. Wilson, Raoul C. M. Hennekam, Andrew J. Sutherland‐Smith, Tim M. Strom, Andrew O.M. Wilkie, Matthew A. Brown, Emma L. Duncan, David Markie, Stephen P. Robertson
Publicat 2016Artigo -
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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia per 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
Publicat 2019Artigo
Eines de cerca:
Matèries relacionades
Medicine
Biology
Gene
Genetics
Pathology
Dysplasia
Mutation
Anatomy
Internal medicine
Receptor
Surgery
Endocrinology
Phenotype
Cell biology
Exome sequencing
Intensive care medicine
Missense mutation
Physical therapy
Short stature
Biochemistry
Bioinformatics
Cartilage
Cell
Chemistry
Distraction
Distraction osteogenesis
Endochondral ossification
Environmental health
Fibrodysplasia ossificans progressiva
Heterotopic ossification