Search Results - BEOM HEE LEE

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  1. 21
    Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

    Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay by Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin

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  2. 22
    Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa

    Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa by Kwon, Hye-Ji, Lee, Beom-Hee, Lee, Joo-Yong

    Published in Genes
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  3. 23
    The Rho-associated kinase inhibitor fasudil can replace Y-27632 for use in human pluripotent stem cell research

    The Rho-associated kinase inhibitor fasudil can replace Y-27632 for use in human pluripotent stem cell research by So, Seongjun, Lee, Yeonmi, Choi, Jiwan, Kang, Seoon, Lee, Ji-Yoon, Hwang, Julie, Shin, Joosung, Dutton, James R, Seo, Eul-Ju, Lee, Beom Hee, Kim, Chong Jai, Mitalipov, Shoukhrat, Oh, Soo Jin, Kang, Eunju

    Published in PloS one
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  4. 24
    Clinical Genetic Testing in Children with Kidney Disease

    Clinical Genetic Testing in Children with Kidney Disease by Kang, Eungu, Lee, Beom Hee

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  5. 25
    Robust Mass Estimation for Enhanced Braking Distance Calculation in Electric Vehicles With Autonomous Emergency Braking Systems

    Robust Mass Estimation for Enhanced Braking Distance Calculation in Electric Vehicles With Autonomous Emergency Braking Systems by Ko, Sangjin, Lee, Hee Beom, Kim, Gyuwon, Lee, Seung-Yong, Kim, Gi-Woo

    Published in IEEE access
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  6. 26
    Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

    Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression by Kang, Eungu, Kim, Yoon-Myung, Choi, Yunha, Lee, Yena, Kim, JunYoung, Choi, In Hee, Yoo, Han-Wook, Yoon, Hee Mang, Lee, Beom Hee

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  7. 27
    Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy

    Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy by Kim, Oc-Hee, Kim, Jihyun, Kim, Youngjun, Lee, Soyoung, Lee, Beom Hee, Kim, Bong-Jo, Park, Hyun-Young, Park, Mi-Hyun

    Published in BMC medical genomics
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  8. 28
    Neurofibromatosis type I: points to be considered by general pediatricians

    Neurofibromatosis type I: points to be considered by general pediatricians by Kang, Eungu, Yoon, Hee Mang, Lee, Beom Hee

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  9. 29
    Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder

    Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder by Cheon, Chong Kun, MD, Lee, Beom Hee, MD, Ko, Jung Min, MD, Kim, Hyun-Ji, MD, Yoo, Han-Wook, MD

    Published in Pediatric neurology
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  10. 30
    Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

    Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome by Go, Anna, Lee, Beom Hee, Choi, Jin-Ho, Jeong, Jiyoon, Jung, Euiseok, Lee, Byong Sop

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  11. 31
    Clinical and molecular spectra of BRAF-associated RASopathy

    Clinical and molecular spectra of BRAF-associated RASopathy by Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Choi, In Hee, Keum, Changwon, Ko, Jung Min, Cheon, Chong Kun, Jeon, Jihyun, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee

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  12. 32
    Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs

    Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs by Kim, Bumsoo, Koh, Yongjun, Do, Hyunsu, Ju, Younghee, Choi, Jong Bin, Cho, Gahyang, Yoo, Han-Wook, Lee, Beom Hee, Han, Jinju, Park, Jong-Eun, Han, Yong-Mahn

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  13. 33
    Clinical and genetic analyses of patients with lateralized overgrowth

    Clinical and genetic analyses of patients with lateralized overgrowth by Kim, Yoon-Myung, Lee, Yena, Choi, Yunha, Choi, In Hee, Heo, Sun Hee, Choi, Jung Min, Do, Hyo-Sang, Jang, Ja-Hyun, Yum, Mi-Sun, Yoo, Han-Wook, Lee, Beom Hee

    Published in BMC medical genomics
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  14. 34
    Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

    Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening by Kang, Eungu, Kim, Yoon-Myung, Kang, Minji, Heo, Sun-Hee, Kim, Gu-Hwan, Choi, In-Hee, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee

    Published in BMC pediatrics
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  15. 35
    Phenotypic and Genetic Complexity in Pediatric Movement Disorders

    Phenotypic and Genetic Complexity in Pediatric Movement Disorders by Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Ko, Tae-Sung, Lee, Beom Hee

    Published in Frontiers in genetics
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  16. 36
    Genetic heterogeneity of cardiomyopathy and its correlation with patient care

    Genetic heterogeneity of cardiomyopathy and its correlation with patient care by Kim, Mi Jin, Cha, Seulgi, Baek, Jae Suk, Yu, Jeong Jin, Seo, Go Hun, Kang, Minji, Do, Hyo-Sang, Lee, Sang Eun, Lee, Beom Hee

    Published in BMC medical genomics
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  17. 37
    Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

    Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management by Jung, Jiwon, Lee, Joo Hoon, Park, Young Seo, Seo, Go Hun, Keum, Changwon, Kang, Hee Gyung, Lee, Hajeong, Lee, Sang Koo, Lee, Sang Taek, Cho, Heeyeon, Lee, Beom Hee

    Published in BMC medical genomics
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  18. 38
    Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing

    Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing by Jang, Gayoung, Shin, Ha Rim, Do, Hyo-Sang, Kweon, Jiyeon, Hwang, Soojin, Kim, Soyoung, Heo, Sun Hee, Kim, Yongsub, Lee, Beom Hee

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  19. 39
    The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

    The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects by Kim, Yoo-Mi, Choi, Jin-Ho, Kim, Gu-Hwan, Sohn, Young Bae, Ko, Jung Min, Lee, Beom Hee, Cheon, Chong Kun, Lim, Han Hyuk, Heo, Sun-Hee, Yoo, Han-Wook

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  20. 40
    Analysis of Rank-Based Resampling Based on Particle Diversity in the Rao-Blackwellized Particle Filter for Simultaneous Localization and Mapping

    Analysis of Rank-Based Resampling Based on Particle Diversity in the Rao-Blackwellized Particle Filter for Simultaneous Localization and Mapping by Kwak, Nosan, Yokoi, Kazuhito, Lee, Beom-Hee

    Published in Advanced robotics
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