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Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Published in:
Clinical Genetics, 2016, v. 89, n. 4, p. 484, doi. 10.1111/cge.12621
By:
- Seong, M.‐W.;
- Cho, A.;
- Park, H.W.;
- Seo, S.H.;
- Lim, B.C.;
- Seol, D.;
- Cho, S.I.;
- Park, S.S.;
- Chae, J.H.
Publication type:
Article
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 80, doi. 10.1111/cge.12442
By:
- Seo, S. H.;
- Hwang, S. M.;
- Ko, J. M.;
- Ko, J. S.;
- Hyun, Y. J.;
- Cho, S. I.;
- Park, H.;
- Kim, S. Y.;
- Seong, M.‐W.;
- Park, S. S.
Publication type:
Article
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
Published in:
Clinical Genetics, 2014, v. 86, n. 5, p. 482, doi. 10.1111/cge.12304
By:
- Kim, J.H.;
- Seong, M.‐W.;
- Lee, K.E.;
- Choi, H.J.;
- Ku, E.J.;
- Bae, J.H.;
- Park, S.S.;
- Choi, S.H.;
- Kim, S.W.;
- Shin, CS;
- Kim, S.Y.
Publication type:
Article
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
Published in:
Clinical Genetics, 2013, v. 83, n. 5, p. 494, doi. 10.1111/j.1399-0004.2012.01954.x
By:
- Seo, SH;
- Ahn, HS;
- Yu, YS;
- Kang, HJ;
- Park, KD;
- Cho, SI;
- Park, JS;
- Hyun, YJ;
- Kim, JY;
- Seong, M‐W;
- Park, SS
Publication type:
Article
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
Published in:
Clinical Genetics, 2012, v. 82, n. 1, p. 77, doi. 10.1111/j.1399-0004.2011.01693.x
By:
- Kim, S Y;
- Seong, M W;
- Jeon, B S;
- Ko, H S;
- Kim, J Y;
- Park, S S
Publication type:
Article
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.
Published in:
Clinical Genetics, 2009, v. 76, n. 2, p. 152, doi. 10.1111/j.1399-0004.2009.01202.x
By:
- Seong, M.-W.;
- Cho, S. I.;
- Noh, D.-Y.;
- Han, W.;
- Kim, S.-W.;
- Park, C.-M.;
- Park, H.-W.;
- Kim, S. Y.;
- Kim, J. Y.;
- Park, S. S.
Publication type:
Article
Diagnosis and treatment of nail melanoma: a review of the clinicopathologic, dermoscopic, and genetic characteristics.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 5, p. 651, doi. 10.1111/jdv.17975
By:
- Darmawan, C.C.;
- Ohn, J.;
- Mun, J.‐H.;
- Kim, S.;
- Lim, Y.;
- Jo, S.J.;
- Kim, Y.‐g.;
- Kim, B.;
- Seong, M.‐W.;
- Kim, B.J.;
- Lee, C.;
- Kwak, Y.;
- Chung, H.J.;
- Virós, A.;
- Lee, D.Y.
Publication type:
Article
The etiology of genetic neonatal/infantile cholestasis and usefulness of the molecular genetic testing.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 764, doi. 10.1097/MPG.0000000000003446
By:
- Hahn, J. W.;
- Moon, S. Y.;
- Shin, M.;
- Seong, M. W.;
- Park, S. S.;
- Moon, J. S.;
- Ko, J. S.
Publication type:
Article
PKHD1 mutations and clinical manifestations in children with Caroli syndrome and autosomal recessive polycystic kidney disease.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 709, doi. 10.1097/MPG.0000000000003446
By:
- Moon, S. Y.;
- Hahn, J. W.;
- Shin, M.;
- Seong, M.-W.;
- Park, S. S.;
- Moon, J. S.;
- Cheong, H. i.;
- Ko, J. S.
Publication type:
Article

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