Hasil Pencarian - Murim Choi
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1
Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases oleh Gerald Goh, Murim Choi
Diterbitkan 2012-12-01Dapatkan teks lengkap
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2
Ultra-rare Disease and Genomics-Driven Precision Medicine oleh Sangmoon Lee, Murim Choi
Diterbitkan 2016-06-01Dapatkan teks lengkap
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3
Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. oleh Murim Choi, John Klingensmith
Diterbitkan 2009-02-01Dapatkan teks lengkap
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4
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome oleh Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Diterbitkan 2021-05-01Dapatkan teks lengkap
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5
The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma oleh Jin Hyun Kang, Seung Ho Lee, Jawon Lee, Murim Choi, Junhun Cho, Seok Jin Kim, Won Seog Kim, Young Hyeh Ko, Hae Yong Yoo
Diterbitkan 2021-01-01Dapatkan teks lengkap
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6
Data of methylome and transcriptome derived from human dilated cardiomyopathy oleh Bong-Seok Jo, In-Uk Koh, Jae-Bum Bae, Ho-Yeong Yu, Eun-Seok Jeon, Hae-Young Lee, Jae-Joong Kim, Murim Choi, Sun Shim Choi
Diterbitkan 2016-12-01Dapatkan teks lengkap
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7
Fatal systemic disorder caused by biallelic variants in FARSA oleh Soo Yeon Kim, Saebom Ko, Hyunook Kang, Man Jin Kim, Jangsup Moon, Byung Chan Lim, Ki Joong Kim, Murim Choi, Hee-Jung Choi, Jong-Hee Chae
Diterbitkan 2022-08-01Dapatkan teks lengkap
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8
JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms oleh Shuichi Shirane, Marito Araki, Soji Morishita, Yoko Edahiro, Hiraku Takei, Yongjin Yoo, Murim Choi, Yoshitaka Sunami, Yumi Hironaka, Masaaki Noguchi, Michiaki Koike, Naohiro Noda, Akimichi Ohsaka, Norio Komatsu
Diterbitkan 2015-02-01Dapatkan teks lengkap
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9
Simple modeling of familial Alzheimer’s disease using human pluripotent stem cell-derived cerebral organoid technology oleh Mu Seog Choe, Han Cheol Yeo, Joong Sun Kim, Jean Lee, Hae Jun Lee, Hyung-Ryong Kim, Kyung Min Baek, Na-Yeon Jung, Murim Choi, Min Young Lee
Diterbitkan 2024-04-01Dapatkan teks lengkap
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10
Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22 oleh Cho-Rong Lee, Man Jin Kim, Sang-Heon Park, Sheehyun Kim, Soo Yeon Kim, Seong-Joon Koh, Seungbok Lee, Murim Choi, Jong Hee Chae, Sung-Gyoo Park, Jangsup Moon
Diterbitkan 2024-08-01Dapatkan teks lengkap
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11
Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1. oleh Victoria L Patterson, Alfred J Zullo, Claire Koenig, Sean Stoessel, Hakryul Jo, Xinran Liu, Jinah Han, Murim Choi, Andrew T DeWan, Jean-Leon Thomas, Chia-Yi Kuan, Josephine Hoh
Diterbitkan 2014-01-01Dapatkan teks lengkap
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12
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy oleh Jieun Seo, Cho‐Rong Lee, Jin Chul Paeng, Hyun W. Kwon, Duckgue Lee, Soon‐Chan Kim, Jaeseok Han, Ja‐Lok Ku, Jong Hee Chae, Byung Chan Lim, Murim Choi
Diterbitkan 2020-08-01Dapatkan teks lengkap
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13
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population oleh Sangmoon Lee, Jihae Seo, Jinman Park, Jae-Yong Nam, Ahyoung Choi, Jason S. Ignatius, Robert D. Bjornson, Jong-Hee Chae, In-Jin Jang, Sanghyuk Lee, Woong-Yang Park, Daehyun Baek, Murim Choi
Diterbitkan 2017-06-01Dapatkan teks lengkap
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14
Generation and characterization of a mitotane-resistant adrenocortical cell line oleh Eric Seidel, Gudrun Walenda, Clemens Messerschmidt, Benedikt Obermayer, Mirko Peitzsch, Paal Wallace, Rohini Bahethi, Taekyeong Yoo, Murim Choi, Petra Schrade, Sebastian Bachmann, Gerhard Liebisch, Graeme Eisenhofer, Dieter Beule, Ute I Scholl
Diterbitkan 2020-02-01Dapatkan teks lengkap
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15
Interaction effect between NAFLD severity and high carbohydrate diet on gut microbiome alteration and hepatic de novo lipogenesis oleh Hyena Kang, Hyun Ju You, Giljae Lee, Seung Hyun Lee, Taekyung Yoo, Murim Choi, Sae Kyung Joo, Jeong Hwan Park, Mee Soo Chang, Dong Hyeon Lee, Won Kim, GwangPyo Ko
Diterbitkan 2022-12-01Dapatkan teks lengkap
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16
Impact of Evolutionary Changes in Nonalcoholic Fatty Liver Disease on Lung Function Decline oleh Hyun Woo Lee, Goh Eun Chung, Bo Kyung Koo, Hyungtai Sim, Murim Choi, Dong Hyeon Lee, Seung Ho Choi, Soo Heon Kwak, Deog Kyeom Kim, Won Kim, on behalf of the Innovative Target Exploration of NAFLD (ITEN) consortium
Diterbitkan 2023-01-01Dapatkan teks lengkap
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17
A logical network-based drug-screening platform for Alzheimer’s disease representing pathological features of human brain organoids oleh Jong-Chan Park, So-Yeong Jang, Dongjoon Lee, Jeongha Lee, Uiryong Kang, Hongjun Chang, Haeng Jun Kim, Sun-Ho Han, Jinsoo Seo, Murim Choi, Dong Young Lee, Min Soo Byun, Dahyun Yi, Kwang-Hyun Cho, Inhee Mook-Jung
Diterbitkan 2021-01-01Dapatkan teks lengkap
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18
Microglia Gravitate toward Amyloid Plaques Surrounded by Externalized Phosphatidylserine via TREM2 oleh Jong‐Chan Park, Jong Won Han, Woochan Lee, Jieun Kim, Sang‐Eun Lee, Dongjoon Lee, Hayoung Choi, Jihui Han, You Jung Kang, Yen N. Diep, Hansang Cho, Rian Kang, Won Jong Yu, Jean Lee, Murim Choi, Sun‐Wha Im, Jong‐Il Kim, Inhee Mook‐Jung
Diterbitkan 2024-09-01Dapatkan teks lengkap
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19
Overlooked KCNQ4 variants augment the risk of hearing loss oleh Kyung Seok Oh, Jae Won Roh, Sun Young Joo, Kunhi Ryu, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Young Ik Koh, Da Hye Kim, Hye-Youn Kim, Murim Choi, Jinsei Jung, Wan Namkung, Joo Hyun Nam, Jae Young Choi, Heon Yung Gee
Diterbitkan 2023-04-01Dapatkan teks lengkap
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20
Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility oleh Jieun Seo, Min Soo Byun, Dahyun Yi, Jun Ho Lee, So Yeon Jeon, Seong A. Shin, Yu Kyeong Kim, Koung Mi Kang, Chul-Ho Sohn, Gijung Jung, Jong-Chan Park, Sun-Ho Han, Jayoung Byun, Inhee Mook-Jung, Dong Young Lee, Murim Choi, for the KBASE Research Group
Diterbitkan 2020-11-01Dapatkan teks lengkap
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