Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Geehay Hong"'
1
Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease
Autor: Sun Joo Yoon, Won Kyung Kwon, Geehay Hong, Ja-Hyun Jang, Byong Chang Jeong, Jae Hyeon Kim, Jong-Won Kim
Publikováno v: Annals of Laboratory Medicine. 42:352-357
von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (The VHL clinic was organized at the Samsung Medical Center in 2011 and consisted of a multidisciplinary team, including an endocrin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7369c05c17f96357fa11480ef1079b92
https://doi.org/10.3343/alm.2022.42.3.352
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3
CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
Autor: Geehay Hong, Soo-Youn Lee, Hyung Doo Park, Chang-Seok Ki, Jae Hyeon Kim, Junghan Song, Jong-Won Kim, Dong Kyu Jin, Rihwa Choi
Publikováno v: Annals of Laboratory Medicine
CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions. The objective of this stud
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2728866c3ae51ce18f492ade5c3c6d44
http://europepmc.org/articles/PMC4510508
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4
Evaluation of the illumigene C. difficile assay for toxigenic Clostridium difficile detection: a prospective study of 302 consecutive clinical fecal samples
Autor: Geehay Hong, Kyung Sun Park, Nam Yong Lee, Chang-Seok Ki
Publikováno v: Diagnostic Microbiology and Infectious Disease. 80:177-180
Toxigenic Clostridium difficile is a major pathogen causing nosocomial diarrhea. Consequently, rapid detection of toxigenic C. difficile is very important in clinical laboratories. The illumigene C. difficile DNA amplification assay (illumigene; Meri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e26f7d0f1332538f3daa7ed84232d6d
https://doi.org/10.1016/j.diagmicrobio.2014.08.014
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5
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta
Autor: Gen Nishimura, Thomas J. Carney, P.V. Asharani, Dong-Kyu Jin, Chang-Seok Ki, Jieun Lee, Noriko Miyake, Rimm Huh, Younghee Kwun, Young Bae Sohn, Geehay Hong, Aritoshi Iida, Naomichi Matsumoto, Ok Hwa Kim, Shiro Ikegawa, Su Jin Kim, Sung Yoon Cho, Sung Won Park
Publikováno v: Human mutation. 36(2)
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7f938938af63a1506aa6e98a138116
https://pubmed.ncbi.nlm.nih.gov/25402547
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