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BMC Bioinformatics
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February 24, 2023
ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application
Sungyoung Lee, Choong-Hyun Sun, Heejun Jang, et al.
Annals of Laboratory Medicine
|
December 22, 2022
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, et al.
BMC Medical Genetics
|
July 22, 2016
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, et al.
Nature Communications
|
July 1, 2018
2D transition metal dichalcogenides with glucan multivalency for antibody-free pathogen recognition
Tae Woog Kang, Juhee Han, Sin Lee, et al.
Journal of Glaucoma
|
February 22, 2020
Genomic Characterization of TBK1 Duplication in Korean Normal-tension Glaucoma Patients
Man Jin Kim, Yong Woo Kim, Jin Wook Jeoung, et al.
Scientific Reports
|
August 10, 2022
Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing
Soo Hyun Seo, Seungjun Lee, Joseph Kyu-Hyung Park, et al.
The Korean Journal of Internal Medicine
|
August 20, 2020
Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia
Heejoo Han, Ja Min Byun, Dong-Yeop Shin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2020
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease
Soo Hyun Seo, Albino Bacolla, Dallah Yoo, et al.
Journal of Medical Genetics
|
April 7, 2022
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Sung Eun Hong, Jana Kneissl, Anna Cho, et al.
The Journal of Molecular Diagnostics : JMD
|
January 9, 2016
Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications
Man Jin Kim, Sung Im Cho, Jong-Hee Chae, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 80) with videos related to
Sort By:
Page
of 8
BMC Bioinformatics
|
February 24, 2023
ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application
Sungyoung Lee, Choong-Hyun Sun, Heejun Jang, et al.
Annals of Laboratory Medicine
|
December 22, 2022
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, et al.
BMC Medical Genetics
|
July 22, 2016
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, et al.
Nature Communications
|
July 1, 2018
2D transition metal dichalcogenides with glucan multivalency for antibody-free pathogen recognition
Tae Woog Kang, Juhee Han, Sin Lee, et al.
Journal of Glaucoma
|
February 22, 2020
Genomic Characterization of TBK1 Duplication in Korean Normal-tension Glaucoma Patients
Man Jin Kim, Yong Woo Kim, Jin Wook Jeoung, et al.
Scientific Reports
|
August 10, 2022
Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing
Soo Hyun Seo, Seungjun Lee, Joseph Kyu-Hyung Park, et al.
The Korean Journal of Internal Medicine
|
August 20, 2020
Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia
Heejoo Han, Ja Min Byun, Dong-Yeop Shin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 11, 2020
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease
Soo Hyun Seo, Albino Bacolla, Dallah Yoo, et al.
Journal of Medical Genetics
|
April 7, 2022
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Sung Eun Hong, Jana Kneissl, Anna Cho, et al.
The Journal of Molecular Diagnostics : JMD
|
January 9, 2016
Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications
Man Jin Kim, Sung Im Cho, Jong-Hee Chae, et al.
Page
of 8