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Orphanet Journal of Rare Diseases
|
July 9, 2025
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity
Hye-Won Cho, Hyeseon Kim, Jeong-Min Kim, et al.
Nature Communications
|
July 3, 2025
Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome
Sung Eun Wang, Yubao Cheng, Jaechul Lim, et al.
Microbiology Spectrum
|
March 7, 2024
Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B
Tae Yeul Kim, Min-Seung Park, Sun Ae Yun, et al.
Scientific Reports
|
May 15, 2026
Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing
Hye-Won Cho, Jeong-Min Kim, Sung Hyeon Park, et al.
Journal of Clinical Medicine
|
May 14, 2022
<i>Gardnerella vaginalis</i> in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome
Jeong-Ju Yoo, Ju Sun Song, Woong Bin Kim, et al.
American Journal of Ophthalmology
|
March 8, 2025
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics
Sungsoon Hwang, Sohee Jeon, Je Moon Yoon, et al.
American Journal of Human Genetics
|
January 27, 2015
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome
Mi-Ae Jang, Eun Kyoung Kim, Hesung Now, et al.
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Search research articles
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Showing results (81-90 of 87) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 87 results.
Orphanet Journal of Rare Diseases
|
July 9, 2025
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity
Hye-Won Cho, Hyeseon Kim, Jeong-Min Kim, et al.
Nature Communications
|
July 3, 2025
Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome
Sung Eun Wang, Yubao Cheng, Jaechul Lim, et al.
Microbiology Spectrum
|
March 7, 2024
Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B
Tae Yeul Kim, Min-Seung Park, Sun Ae Yun, et al.
Scientific Reports
|
May 15, 2026
Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing
Hye-Won Cho, Jeong-Min Kim, Sung Hyeon Park, et al.
Journal of Clinical Medicine
|
May 14, 2022
<i>Gardnerella vaginalis</i> in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome
Jeong-Ju Yoo, Ju Sun Song, Woong Bin Kim, et al.
American Journal of Ophthalmology
|
March 8, 2025
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics
Sungsoon Hwang, Sohee Jeon, Je Moon Yoon, et al.
American Journal of Human Genetics
|
January 27, 2015
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome
Mi-Ae Jang, Eun Kyoung Kim, Hesung Now, et al.
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of 9