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Journal of Korean Medical Science
|
March 2, 2012
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea
Bo Lyun Lee, Sook Hyun Nam, Jun Hwa Lee, et al.
Annals of Clinical and Laboratory Science
|
June 24, 2021
Compound Heterozygous <i>PIGT</i> Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia
Yun Jung Hur, Bo Lyun Lee, Woo Yeong Chung, et al.
Epilepsia
|
October 19, 2011
The role of ketogenic diet in the treatment of refractory status epilepticus
Sook Hyun Nam, Bo Lyun Lee, Cha Gon Lee, et al.
Annals of Clinical and Laboratory Science
|
March 13, 2020
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift <i>ARID1B</i> Mutation
Bo Lyun Lee, Seung Hwan Oh, Kyung Ran Jun, et al.
Clinical and Experimental Pediatrics
|
April 22, 2026
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders
Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, et al.
Brain & Development
|
December 9, 2008
Dysembryoplastic neuroepithelial tumors in pediatric patients
Jeehun Lee, Bo Lyun Lee, Eun Yeon Joo, et al.
Annals of Clinical and Laboratory Science
|
November 9, 2023
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of <i>TOE1</i> in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report
Yoon Hee Jo, Kyung-Hwa Shin, Hyerin Kim, et al.
Pediatric Research
|
October 27, 2021
Long-term cognitive outcomes in term newborns with watershed injury caused by neonatal encephalopathy
Bo Lyun Lee, Dawn Gano, Elizabeth E Rogers, et al.
Annals of Clinical and Laboratory Science
|
August 1, 2025
Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic <i>RNASEH2B</i> Variant
Keun Soo Lee, Da Eun Roh, Eun Jin Choi, et al.
Annals of Clinical and Laboratory Science
|
January 5, 2024
Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
Donghyun Shin, Yoo Jung Lee, Yoon Hee Jo, et al.
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Search research articles
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Showing results (11-20 of 25) with videos related to
Sort By:
Page
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Journal of Korean Medical Science
|
March 2, 2012
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea
Bo Lyun Lee, Sook Hyun Nam, Jun Hwa Lee, et al.
Annals of Clinical and Laboratory Science
|
June 24, 2021
Compound Heterozygous <i>PIGT</i> Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia
Yun Jung Hur, Bo Lyun Lee, Woo Yeong Chung, et al.
Epilepsia
|
October 19, 2011
The role of ketogenic diet in the treatment of refractory status epilepticus
Sook Hyun Nam, Bo Lyun Lee, Cha Gon Lee, et al.
Annals of Clinical and Laboratory Science
|
March 13, 2020
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift <i>ARID1B</i> Mutation
Bo Lyun Lee, Seung Hwan Oh, Kyung Ran Jun, et al.
Clinical and Experimental Pediatrics
|
April 22, 2026
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders
Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, et al.
Brain & Development
|
December 9, 2008
Dysembryoplastic neuroepithelial tumors in pediatric patients
Jeehun Lee, Bo Lyun Lee, Eun Yeon Joo, et al.
Annals of Clinical and Laboratory Science
|
November 9, 2023
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of <i>TOE1</i> in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report
Yoon Hee Jo, Kyung-Hwa Shin, Hyerin Kim, et al.
Pediatric Research
|
October 27, 2021
Long-term cognitive outcomes in term newborns with watershed injury caused by neonatal encephalopathy
Bo Lyun Lee, Dawn Gano, Elizabeth E Rogers, et al.
Annals of Clinical and Laboratory Science
|
August 1, 2025
Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic <i>RNASEH2B</i> Variant
Keun Soo Lee, Da Eun Roh, Eun Jin Choi, et al.
Annals of Clinical and Laboratory Science
|
January 5, 2024
Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
Donghyun Shin, Yoo Jung Lee, Yoon Hee Jo, et al.
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