Hasil Pencarian - Man-Jin Kim

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  1. 1
    Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene

    Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene oleh Yunsoo Choe, Choong Ho Shin, Young Ah Lee, Man Jin Kim, Yun Jeong Lee

    Diterbitkan 2022-07-01
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  2. 2
    Electrospray mode discrimination with current signal using deep convolutional neural network and class activation map

    Electrospray mode discrimination with current signal using deep convolutional neural network and class activation map oleh Man Jin Kim, Jin Yeong Song, Seok Hyeon Hwang, Dong Yong Park, Sang Min Park

    Diterbitkan 2022-09-01
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  3. 3
    A Case of AOA2 With Compound Heterozygous SETX Mutations

    A Case of AOA2 With Compound Heterozygous SETX Mutations oleh Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim

    Diterbitkan 2022-05-01
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  4. 4
    Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation

    Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation oleh Heerah Lee, Seung-Won Chae, Sung Im Cho, Jee-Soo Lee, Man Jin Kim, Moon-Woo Seong

    Diterbitkan 2024-02-01
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  5. 5
    Hereditary Fructose Intolerance Diagnosed in Adulthood

    Hereditary Fructose Intolerance Diagnosed in Adulthood oleh Min Soo Kim, Jin Soo Moon, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jae Sung Ko

    Diterbitkan 2021-01-01
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  6. 6
    Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS

    Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS oleh Seondeuk Kim, Man Jin Kim, Hyoshin Son, Sungeun Hwang, Mi‐Kyoung Kang, Kon Chu, Sang Kun Lee, Jangsup Moon

    Diterbitkan 2021-12-01
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  7. 7
    Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7

    Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7 oleh Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon

    Diterbitkan 2020-09-01
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  8. 8
    Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

    Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy oleh You Jung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Man Jin Kim, Sung Sub Park

    Diterbitkan 2018-12-01
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  9. 9
    Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

    Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing oleh Boram Kim, Man Jin Kim, Keunyoung Hur, Seong Jin Jo, Jung Min Ko, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun

    Diterbitkan 2021-01-01
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  10. 10
    Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm

    Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm oleh Seok Ryun Kwon, Man Jin Kim, Young-eun Lee, Jiwon Yun, Da-jeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Dong Soon Lee

    Diterbitkan 2022-01-01
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  11. 11
    The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography

    The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography oleh Yuna Lee, Seunghyun Lee, Saebeom Hur, Yun Soo Jeong, Dong In Suh, Jangsup Moon, Man Jin Kim, Young Hun Choi, Jung-Eun Cheon

    Diterbitkan 2023-04-01
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  12. 12
    Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.

    Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm. oleh Seok Ryun Kwon, Man Jin Kim, Young-Eun Lee, Jiwon Yun, Da-Jeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Dong Soon Lee

    Diterbitkan 2022-01-01
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  13. 13
    Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

    Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea oleh Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seong

    Diterbitkan 2024-09-01
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  14. 14
    Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

    Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy oleh Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae

    Diterbitkan 2021-06-01
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  15. 15
    Fatal systemic disorder caused by biallelic variants in FARSA

    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 2022-08-01
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  16. 16
    A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

    A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report oleh Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim

    Diterbitkan 2022-08-01
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  17. 17
    Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22

    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 2024-08-01
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  18. 18
    Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease

    Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease oleh Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim, Moon Woo Seong, Young Hun Choi, Gyeong Hoon Kang, Jaemoon Koh, Jin Soo Moon

    Diterbitkan 2024-06-01
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  19. 19
    Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

    Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma oleh Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

    Diterbitkan 2020-12-01
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  20. 20
    Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

    Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy oleh Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

    Diterbitkan 2022-10-01
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