Rezultati pretrage - Tae‐Joon Cho
- Prikaz rezultata 1 – 19 od 19
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Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (<i>NPR2</i>) gene od Kohji Miura, Ok‐Hwa Kim, Hey Ran Lee, Noriyuki Namba, Toshimi Michigami, Won Joon Yoo, In Ho Choi, Keiichi Ozono, Tae‐Joon Cho
Izdano 2013Artigo -
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Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia od 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
Izdano 2018Revisão -
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Best practices in peri‐operative management of patients with skeletal dysplasias od 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
Izdano 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 od 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
Izdano 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 od 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
Izdano 2010Artigo -
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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V od 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
Izdano 2012Artigo -
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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy od 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
Izdano 2014Artigo -
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Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP) od 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
Izdano 2018Revisão -
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Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type od 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
Izdano 2011Artigo -
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations od 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
Izdano 2016Artigo -
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Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles od 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
Izdano 2022Revisão -
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype od 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
Izdano 2017Artigo -
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia od 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
Izdano 2016Artigo -
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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia od 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
Izdano 2019Artigo
Alati za pretragu:
Povezani predmeti
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