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Orphanet Journal of Rare Diseases
|
August 2, 2022
Fatal systemic disorder caused by biallelic variants in FARSA
Soo Yeon Kim, Saebom Ko, Hyunook Kang, et al.
Annals of Laboratory Medicine
|
July 30, 2025
High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul Kim, Jee-Soo Lee, Boram Kim, et al.
BMC Medical Genomics
|
March 3, 2025
Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
Jihoon G Yoon, Seungbok Lee, Soojin Park, et al.
Endocrinology and Metabolism (Seoul, Korea)
|
January 5, 2021
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, et al.
BMC Pediatrics
|
June 18, 2024
Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease
Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, et al.
Frontiers in Neurology
|
August 30, 2023
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort
Young Jun Ko, Soo Yeon Kim, Seungbok Lee, et al.
Annals of Laboratory Medicine
|
April 7, 2021
Determination of Clinical Characteristics of <i>Mycobacterium kansasii</i>-Derived Species by Reanalysis of Isolates Formerly Reported as <i>M. kansasii</i>
Young-Gon Kim, Hong Yeul Lee, Nakwon Kwak, et al.
Pediatric Neurology
|
May 22, 2026
Diagnostic Complexity of Pediatric Hemophagocytic Lymphohistiocytosis With Central Nervous System Involvement
Seoyun Jang, Hye Jin Kim, Jong Ho Cha, et al.
Scientific Reports
|
August 1, 2024
Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
Cho-Rong Lee, Man Jin Kim, Sang-Heon Park, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2020
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, et al.
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Search research articles
Search
Showing results (41-50 of 80) with videos related to
Sort By:
Page
of 8
Orphanet Journal of Rare Diseases
|
August 2, 2022
Fatal systemic disorder caused by biallelic variants in FARSA
Soo Yeon Kim, Saebom Ko, Hyunook Kang, et al.
Annals of Laboratory Medicine
|
July 30, 2025
High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul Kim, Jee-Soo Lee, Boram Kim, et al.
BMC Medical Genomics
|
March 3, 2025
Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
Jihoon G Yoon, Seungbok Lee, Soojin Park, et al.
Endocrinology and Metabolism (Seoul, Korea)
|
January 5, 2021
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, et al.
BMC Pediatrics
|
June 18, 2024
Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease
Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, et al.
Frontiers in Neurology
|
August 30, 2023
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort
Young Jun Ko, Soo Yeon Kim, Seungbok Lee, et al.
Annals of Laboratory Medicine
|
April 7, 2021
Determination of Clinical Characteristics of <i>Mycobacterium kansasii</i>-Derived Species by Reanalysis of Isolates Formerly Reported as <i>M. kansasii</i>
Young-Gon Kim, Hong Yeul Lee, Nakwon Kwak, et al.
Pediatric Neurology
|
May 22, 2026
Diagnostic Complexity of Pediatric Hemophagocytic Lymphohistiocytosis With Central Nervous System Involvement
Seoyun Jang, Hye Jin Kim, Jong Ho Cha, et al.
Scientific Reports
|
August 1, 2024
Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
Cho-Rong Lee, Man Jin Kim, Sang-Heon Park, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2020
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, et al.
Page
of 8