134 results  1 of 7 

1 Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
Yoon Ju Bang, Won Kyung Kwon, Jong-Won Kim, Jeong Eon Lee, Boo Yeon Jung, Mina Kim, Jisun Kim, Jeongshin An, Seung Pil Jung, Hong-Kyu Kim, Zisun Kim, Hyun Jo Youn, Jai Min Ryu, Sung-Won Kim,
Ann Surg Treat Res.2022;103(6):323-330.   Published online 2022 December 8     DOI: http://dx.doi.org/10.4174/astr.2022.103.6.323
      
2 유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용
Yu Jeong Choi, Boyeon Kim, Yoonjung Kim, Saeam Shin, Kyung-A Lee
Lab Med Online.2022;12(3):145-158.   Published online 2022 July 1     DOI: http://dx.doi.org/10.47429/lmo.2022.12.3.145
      
3 Guidelines for Genetic Counseling and Reporting of Cancer Genetic Test Results: Genetic Test for Hereditary Cancer-predisposing Syndrome Using Next-generation Sequencing
Do-Hoon Kim, Namhee Kim, Sun-Young Kong
Lab Med Online.2022;12(3):159-168.   Published online 2022 July 1     DOI: http://dx.doi.org/10.47429/lmo.2022.12.3.159
      
4 Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia
Hee Won Chueh, Sang Mee Hwang, Ye Jee Shim, Jae Min Lee, Hee Sue Park, Joon Hee Lee, Youngwon Nam, Namhee Kim, Hye Lim Jung, Hyoung Soo Choi, on behalf of Korean RBC Disorder Working Party
Blood Res.2022;57(2):86-94.   Published online 2022 June 30     DOI: http://dx.doi.org/10.5045/br.2022.2021224
      
5 Alport syndrome: new advances in the last decade
Ji Hyun Kim
Child Kidney Dis.2022;26(1):31-39.   Published online 2022 May 27     DOI: http://dx.doi.org/10.3339/ckd.22.022
      
6 Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital
Min Hyun Kim, Duck-Woo Kim, Hye Seung Lee, Su Kyung Bang, Soo Hyun Seo, Kyung Un Park, Heung-Kwon Oh, Sung-Bum Kang
Cancer Res Treat.2023;55(1):179-188.   Published online 2022 March 21     DOI: http://dx.doi.org/10.4143/crt.2021.1512
      
7 An anesthetic experience of hereditary angioedema type I patient undertook total laparoscopic hysterectomy - A case report -
Yun-Sic Bang, Jaeho Cho, Chunghyun Park
Anesth Pain Med.2022;17(2):235-238.   Published online 2022 January 7     DOI: http://dx.doi.org/10.17085/apm.21088
      
8 다중유전자패널검사로 새로운 ANK1 변이가 발견된 유전구형적혈구증 환자의 1예 보고
Su Jin Yoon, Eun Hye Cho, Hee-Yeon Woo, Hyosoon Park, Hye Lim Jung, Min-Jung Kwon
Lab Med Online.2022;12(1):58-62.   Published online 2022 January 1     DOI: http://dx.doi.org/10.47429/lmo.2022.12.1.58
      
9 식도암 환자에서 액체생검을 통해 확인된 이차 생식세포 CDKN2A 돌연변이: 증례보고
Hanmil Jang, Dongju Won, Saeam Shin, Seong Yong Park, Dae Joon Kim, Seung-Tae Lee, Jong Rak Choi
Lab Med Online.2022;12(1):63-67.   Published online 2022 January 1     DOI: http://dx.doi.org/10.47429/lmo.2022.12.1.63
      
10 Septodermoplasty: Make It Easier
Chol Ho Shin, Yong Ju Jang
Korean J Otorhinolaryngol-Head Neck Surg.2021;64(10):766-770.   Published online 2021 October 21     DOI: http://dx.doi.org/10.3342/kjorl-hns.2021.00619
      
11 Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients
Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee
Cancer Res Treat.2022;54(3):827-833.   Published online 2021 October 13     DOI: http://dx.doi.org/10.4143/crt.2021.791
      
12 임상검체에서 BRCA 돌연변이를 검출하는 차세대염기서열분석법의 임상적 효용성 평가
Man Jin Kim, Byeong Ju Song, Si Eun Kim, Chang Seon Lee, Ji-Eun Im, Ensel Oh, Keunsook Lee, Sung Im Cho, Kwang Joong Kim, Sung Sup Park, Moon-Woo Seong
Lab Med Online.2021;11(4):283-289.   Published online 2021 October 1     DOI: http://dx.doi.org/10.47429/lmo.2021.11.4.283
      
13 Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients
Ja Young Seo, Jeong-Yeal Ahn, Bhumsuk Keam, Miso Kim, Shinkyo Yoon, Jae Lyun Lee, Kwonoh Park, Inkeun Park
Ann Lab Med.2021;41(2):207-213.   Published online 2021 March 1     DOI: http://dx.doi.org/10.3343/alm.2021.41.2.207
      
14 Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
Bo-Gyeong Kim, Joo-hyun Jung, Mi-Jung Kim, Eun-Hye Moon, Jae-Hwan Oh, Jung-Woo Park, Heung-Eog Cha, Ju-Hyun Kim, Yoon-Jae Kim, Jun-Won Chung, Ki-Baik Hahm, Hong-Ryul Jin, Yong-Ju Jang, Sung Wan Kim, Seung-Kyu Chung, Dae-Woo Kim, Young Jae Lee, Seon-Tae Kim
Clin Exp Otorhinolaryngol.2021;14(4):399-406.   Published online 2021 February 26     DOI: http://dx.doi.org/10.21053/ceo.2020.02124
      
15 Capillary leak syndrome and disseminated intravascular coagulation after kidney transplantation in a patient with hereditary angioedema - A case report -
Jeong Wook Park, Jinyoung Seo, Sang Hun Kim, Ki Tae Jung
Anesth Pain Med.2021;16(1):75-80.   Published online 2021 January 27     DOI: http://dx.doi.org/10.17085/apm.20098
      
16 Factors associated with the decision to undergo risk-reducing salpingo-oophorectomy among women at high risk for hereditary breast and ovarian cancer: a systematic review
Sun-young Park, Youlim Kim, Sue Kim
Korean J Women Health Nurs.2020;26(4):285-299.   Published online 2020 December 9     DOI: http://dx.doi.org/10.4069/kjwhn.2020.11.19
      
17 Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene
Sa-Yoon Kang, Joong Goo Kim, Jung Hwhan Oh
Ann Clin Neurophysiol.2020;22(2):121-124.   Published online 2020 October 28     DOI: http://dx.doi.org/10.14253/acn.2020.22.2.121
      
18 WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System
Yeonjoo Kim, Soo-Hyun Kim
Endocrinol Metab.2020;35(3):494-506.   Published online 2020 September 8     DOI: http://dx.doi.org/10.3803/EnM.2020.302
      
19 Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
Changho Kim, Jin-Sung Park
Yeungnam Univ J Med.2020;37(4):341-344.   Published online 2020 July 31     DOI: http://dx.doi.org/10.12701/yujm.2020.00472
      
20 Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study
Ye Jee Shim, Hye Lim Jung, Hee Young Shin, Hyoung Jin Kang, Jung Yoon Choi, Jeong Ok Hah, Jae Min Lee, Young Tak Lim, Eu Jeen Yang, Hee Jo Baek, Hyoung Soo Choi, Keon Hee Yoo, Jun Eun Park, Seongkoo Kim, Ji Yoon Kim, Eun Sil Park, Ho Joon Im, Hee Won Chueh, Soon Ki Kim, Jae Hee Lee, Eun Sun Yoo, Hyeon Jin Park, Jun Ah Lee, Meerim Park, Hyun Sik Kang, Ji Kyoung Park, Na Hee Lee, Sang Kyu Park, Young-Ho Lee, Seong Wook Lee, Eun Jin Choi, Seom Gim Kong,
J Korean Med Sci.2020;35(33):e279.  Published online 2020 July 27     DOI: http://dx.doi.org/10.3346/jkms.2020.35.e279
      

 1 of 7