Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Changwon Keum"'
Autor:
So Young Kim, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Nayoung Yi, Namju Justin Kim, Moo Kyun Park, Changwon Keum, Go Hun Seo, Byung Yoon Choi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with
Externí odkaz:
https://doaj.org/article/b22ed8b2ba0840258707c314be04aa1d
Autor:
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANK
Externí odkaz:
https://doaj.org/article/a823ec684ffc4806b271bea7426ae051
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 1, Pp 54-60 (2022)
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology
Externí odkaz:
https://doaj.org/article/6c849f60fed54bc4ac3aa978d0b5f515
Autor:
Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF comple
Externí odkaz:
https://doaj.org/article/f92541cb745f4e59a75024cc2e7bab11
Autor:
So Young Kim, Seungmin Lee, Go Hun Seo, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Moo Kyun Park, So min Lee, Bonggi Kim, Nayoung Yi, Namju Justin Kim, Doo Hyun Koh, Sohyun Hwang, Changwon Keum, Byung Yoon Choi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Variant prioritization of exome sequencing (ES) data for molecular diagnosis of sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant challenge. This study used an automated variant prioritization system
Externí odkaz:
https://doaj.org/article/debc16281735427387c11105f50bd90f
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Autor:
Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. Methods Clinical, radiological, pathological, and genetic findings were review
Externí odkaz:
https://doaj.org/article/be9c47dae75f4ea5ad61c05481b6733b
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 126-131 (2020)
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short s
Externí odkaz:
https://doaj.org/article/efbe1171eb5b4538a19a1d427136eb5b
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism. 28:54-60
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3beacd92798559090f3e631669335335
https://doi.org/10.6065/apem.2142116.058
https://doi.org/10.6065/apem.2142116.058
Autor:
Chong Kun Cheon, Yong Beom Shin, Soo-Yeon Kim, Go Hun Seo, Hane Lee, Changwon Keum, Seung Hwan Oh
Publikováno v:
Journal of Genetic Medicine. 19:76-84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89be0d615e0fb15d660f81ce2fd7e520
https://doi.org/10.5734/jgm.2022.19.2.76
https://doi.org/10.5734/jgm.2022.19.2.76
Publikováno v:
Brain and Development. 43:325-330
Background Combined oxidative phosphorylation deficiency 35 (COXPD 35) is a very rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the TRIT1 gene on chromosome 1p34. Only six cases of COXPD 35 and six alleli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::821c9d70f92abfdacfe5d282271c84d2
https://doi.org/10.1016/j.braindev.2020.08.016
https://doi.org/10.1016/j.braindev.2020.08.016