Suchergebnisse - Gee, Heon Yung

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract von Lee, Keum Hwa, Gee, Heon Yung, Shin, Jae Il

Volltext Volltext Volltext

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation von Rim, John Hoon, Choi, Yo Jun, Gee, Heon Yung

Volltext Volltext Volltext

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss von Rim, John Hoon, Choi, Jae Young, Jung, Jinsei, Gee, Heon Yung

Volltext Volltext Volltext

Syntaxin 16 Binds to Cystic Fibrosis Transmembrane Conductance Regulator and Regulates Its Membrane Trafficking in Epithelial Cells von Gee, Heon Yung, Tang, Bor Luen, Kim, Kyung Hwan, Lee, Min Goo

Volltext Volltext Volltext

Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort von Rim, John Hoon, Youk, Taemi, Gee, Heon Yung, Cho, Jooyoung, Yoo, Jongha

Volltext Volltext Volltext

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1 von Wan, Xiaoyang, Chen, Zhaohong, Choi, Won-Il, Gee, Heon Yung, Hildebrandt, Friedhelm, Zhou, Weibin

Volltext Volltext Volltext

Effects of Cold Agglutinin on the Accuracy of Complete Blood Count Results and Optimal Sample Pretreatment Protocols for Eliminating Such Effects von Rim, John Hoon, Chang, Myung Hee, Oh, Joowon, Gee, Heon Yung, Kim, Jeong-Ho, Yoo, Jongha

Volltext Volltext Volltext

PLCE1 regulates the migration, proliferation, and differentiation of podocytes von Yu, Seyoung, Choi, Won-Il, Choi, Yo Jun, Kim, Hye-Youn, Hildebrandt, Friedhelm, Gee, Heon Yung

Volltext Volltext Volltext

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006–2013) von Rim, John Hoon, Youk, Taemi, Kang, Jung Gu, Park, Byung Kyu, Gee, Heon Yung, Kim, Jeong-Ho, Yoo, Jongha

Volltext Volltext Volltext

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report von Nam, Gi-Sung, Rim, John Hoon, Choi, Jae Young, Gee, Heon Yung, Choi, Jong Rak, Lee, Seung-Tae, Jung, Jinsei

Volltext Volltext Volltext

The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis von Gee, Heon Yung, Kim, Chang Keun, Kim, So Won, Lee, Ji Hyun, Kim, Jeong-Ho, Kim, Kyung Hwan, Lee, Min Goo

Volltext Volltext Volltext

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion von Jung, Jinsei, Kim, Jiyoon, Roh, Shin Hye, Jun, Ikhyun, Sampson, Robert D., Gee, Heon Yung, Choi, Jae Young, Lee, Min Goo

Volltext Volltext Volltext

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report von Choi, Hye Ji, Lee, Joon Suk, Yu, Seyoung, Cha, Do Hyeon, Gee, Heon Yung, Choi, Jae Young, Lee, Jong Dae, Jung, Jinsei

Volltext Volltext Volltext

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature von Nabhan, Marwa M., ElKhateeb, Nour, Braun, Daniela A., Eun, Sungho, Saleem, Sahar N., Gee, Heon Yung, Hildebrandt, Friedhelm, Soliman, Neveen A.

Volltext Volltext Volltext

Shank2 mutant mice display a hypersecretory response to cholera toxin von Jung, Eun Suk, Park, Joonhee, Gee, Heon Yung, Jung, Jinsei, Noh, Shin Hye, Lee, Jung-Soo, Richter, Wito, Namkung, Wan, Lee, Min Goo

Volltext Volltext Volltext

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy von Jun, Ikhyun, Lee, Joon Suk, Lee, Ji Hwan, Lee, Christopher Seungkyu, Choi, Seung-il, Gee, Heon Yung, Lee, Min Goo, Kim, Eung Kweon

Volltext Volltext Volltext

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome von Rim, John Hoon, Lee, Seung-Tae, Gee, Heon Yung, Lee, Byung Joo, Choi, Jong Rak, Park, Hye Won, Han, Sueng-Han, Han, Jinu

Volltext Volltext Volltext

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis von Nandadasa, Sumeda, Kraft, Caroline M., Wang, Lauren W., O’Donnell, Anna, Patel, Rushabh, Gee, Heon Yung, Grobe, Kay, Cox, Timothy C., Hildebrandt, Friedhelm, Apte, Suneel S.

Volltext Volltext Volltext

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency von Rim, John Hoon, Lee, Joon Suk, Jung, Jinsei, Lee, Ji Hyun, Lee, Seung-Tae, Choi, Jong Rak, Choi, Jae Young, Lee, Min Goo, Gee, Heon Yung

Volltext Volltext Volltext

In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model von Noh, Byunghwa, Rim, John Hoon, Gopalappa, Ramu, Lin, Haiyue, Kim, Kyu Min, Kang, Min Jin, Gee, Heon Yung, Choi, Jae Young, Kim, Hyongbum Henry, Jung, Jinsei

Volltext Volltext Volltext