Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Yoo‐Mi Kim"'
Autor:
Yoo-Mi Kim, Eunhee Kim
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101296- (2024)
Externí odkaz:
https://doaj.org/article/50834c9afd034275b0ec43b37da77285
Autor:
Kwanghoon Kim, Ji Young Lee, Yoo-Mi Kim, Geena Kim, Eun-Hee Kim, Byoung Kook Lee, Hyejin So, Yoowon Kwon, Jeongmin Shin, Minji Kim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract We retrospectively analyzed National Health Insurance claims data (January 2002–December 2018) to determine the asthma prevalence and risk factors among preterm infants born in Korea. Patients with asthma were defined as those with a histo
Externí odkaz:
https://doaj.org/article/aa6a62a119e74e4082df2baefe0126b8
Autor:
Yoo-Mi Kim
Publikováno v:
Precision and Future Medicine, Vol 6, Iss 4, Pp 218-225 (2022)
Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for a specific age and sex in a reference population.
Externí odkaz:
https://doaj.org/article/dc0068e417414914afc25c7d8b299c4f
Autor:
Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun
Publikováno v:
Molecular Medicine, Vol 28, Iss 1, Pp 1-15 (2022)
Abstract Background The diagnostic yield of whole-exome sequencing (WES) varies from 30%–50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients ha
Externí odkaz:
https://doaj.org/article/4cf814bc387f4a96a50b40323f14c258
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:
Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis
Externí odkaz:
https://doaj.org/article/d6c6f12b9e9948ccbb408ed2d9e61ffd
Autor:
Eun Na Kim, Hyo‐Sang Do, Hwangkyo Jeong, Taeho Kim, Sun Hee Heo, Yoo‐Mi Kim, Chong Kun Cheon, Yena Lee, Yunha Choi, In Hee Choi, Jeongmin Choi, Han‐Wook Yoo, Chong Jai Kim, Ari Zimran, Kyunggon Kim, Beom Hee Lee
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 5, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/2b006b6b1a4a419685557bc7611ab6b8
Autor:
Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations.
Externí odkaz:
https://doaj.org/article/af2d27d6cb5445a3afd76135061408fc
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 1, Pp 52-56 (2020)
Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and early death in PWS patients. The
Externí odkaz:
https://doaj.org/article/0f5659f6031a488f98fb7ae3a632eff3
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate cli
Externí odkaz:
https://doaj.org/article/b0885108a3304f70a31d88444de9a95e