Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Yunha Choi"'
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 1, Pp 60-66 (2024)
Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean b
Externí odkaz:
https://doaj.org/article/ea4bdcbba66943119a49084e047d440d
Publikováno v:
Pediatric Emergency Medicine Journal, Vol 10, Iss 4, Pp 160-164 (2023)
Rhabdomyolysis associated with psychogenic polydipsia and hyponatremia is a rare condition that can cause substantial morbidity and mortality. We report a 14-year-old boy with psychogenic polydipsia who experienced recurrent hyponatremia and subseque
Externí odkaz:
https://doaj.org/article/c850e3cd3fa54476a29ac8e2f73d4746
Publikováno v:
PLoS ONE, Vol 19, Iss 6, p e0305261 (2024)
Inhibiting the functional role of negative regulators in immune cells is an effective approach for developing immunotherapies. The serine/threonine kinase hematopoietic progenitor kinase 1 (HPK1) involved in the T-cell receptor signaling pathway atte
Externí odkaz:
https://doaj.org/article/252a35d157b944dd84edd487d67f9a4f
Autor:
Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-11 (2023)
Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiple
Externí odkaz:
https://doaj.org/article/368140b25ade47a79889160fc12b6735
Publikováno v:
Annals of Child Neurology, Vol 31, Iss 1, Pp 66-69 (2023)
Externí odkaz:
https://doaj.org/article/2b74acca38814271886f1d5ee8ff72f7
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 27-34 (2023)
Abstract Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic
Externí odkaz:
https://doaj.org/article/d1d992c4b91e4d609ce5f8e6999bd09e
Autor:
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lat
Externí odkaz:
https://doaj.org/article/c089b3d5ca8a4853bb48a1e9a785b7df
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
Autor:
Yun Jeong Lee, Yunha Choi, Han-Wook Yoo, Young Ah Lee, Choong Ho Shin, Han Saem Choi, Ho-Seong Kim, Jae Hyun Kim, Jung Eun Moon, Cheol Woo Ko, Moon Bae Ahn, Byung-Kyu Suh, Jin-Ho Choi
Publikováno v:
Endocrinology and Metabolism, Vol 37, Iss 2, Pp 359-368 (2022)
Background Discontinuing growth hormone (GH) treatment during the transition to adulthood has been associated with adverse health outcomes in patients with childhood-onset growth hormone deficiency (CO-GHD). This study investigated the metabolic chan
Externí odkaz:
https://doaj.org/article/e1e487b3084747b38e4baf71d5322918
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