Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Bo Ram Yoon"'
Autor:
JI HOON PARK1, BO RAM YOON1, HYE JIN KIM1, PHIL HYU LEE2, BYUNG-OK CHOI3 bochoi@skku.edu, KI WHA CHUNG1 kwchung@kongju.ac.kr
Publikováno v:
Journal of Genetics. Apr2014, Vol. 93 Issue 1, following p173-177. 7p.
Publikováno v:
Journal of Korea Spatial Information Society. 22:91-103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abfdab239202e14327da4b999efc91c3
https://doi.org/10.12672/ksis.2014.22.6.091
https://doi.org/10.12672/ksis.2014.22.6.091
Publikováno v:
Journal of Human Genetics. 60:103-106
Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous hereditary motor and sensory neuropathy signified by a distal symmetric polyneuropathy. The most frequent subtype is type 1A (CMT1A) caused by duplication in chromosome 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0973001123b22ff9c806073224d87986
https://doi.org/10.1038/jhg.2014.102
https://doi.org/10.1038/jhg.2014.102
Autor:
Jong-Hee Chae, Young Bin Hong, Jin-Mo Park, Byung-Ok Choi, Heasoo Koo, Bo Ram Yoon, Soo Kyung Koo, Ji Hoon Park, Jeong Hyun Yoo, Mi-Hyun Park, Hae-Mi Woo, Ki Wha Chung
Publikováno v:
Neurogenetics
Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1608e0d1aad6100ca50a895a7c24008c
http://europepmc.org/articles/PMC4102772
http://europepmc.org/articles/PMC4102772
Autor:
Byung-Ok Choi, Heung Jae Park, Chanil Park, Bo Ram Yoon, Ki Wha Chung, Sang Beom Kim, Young Se Hyun, S.-H. Heo, Soo Hyun Nam
Publikováno v:
Clinical Genetics. 86:592-594
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::998f8de68d1b13c0e0d93261fdf9ea45
https://doi.org/10.1111/cge.12327
https://doi.org/10.1111/cge.12327
Publikováno v:
Journal of genetics. 93(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0331f12e7dc9e92c7ad5df708e424781
https://pubmed.ncbi.nlm.nih.gov/24840835
https://pubmed.ncbi.nlm.nih.gov/24840835
Autor:
Khriezhanuo Nakhro, Byung Ok Choi, Hyung Lae Kim, Jin Mo Park, Bo Ram Yoon, Ji Yon Kim, Ji Hoon Park, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Heasoo Koo, Sung Chul Jung, Jeong Hyun Yoo, Kyoung Gyu Choi
Publikováno v:
Neurology. 81(2)
Objective: To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. Methods: We enrolled 14 members of a Korean family in which 3 individuals had demyelinating CMT4B phenotype and obtai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98083541ab82b5c5cbd22bc7f1547b7d
https://pubmed.ncbi.nlm.nih.gov/24799518
https://pubmed.ncbi.nlm.nih.gov/24799518
Autor:
Yu Ri Choi, Young Bin Hong, Heasoo Koo, Ye Jin Kim, Jeong Hyun Yoo, Jin Mo Park, Ki Wha Chung, Minhwa Park, Bo Ram Yoon, Sang Beom Kim, Byung Ok Choi, Hyeon Jin Kim
Publikováno v:
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES(8)
ORPHANET JOURNAL OF RARE DISEASES(8)
Background Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9b10ac8e3b68a0f06623b5aac49c1a
https://pubmed.ncbi.nlm.nih.gov/23844677
https://pubmed.ncbi.nlm.nih.gov/23844677
Autor:
Young Bin Hong, Ki Wha Chung, Young Chul Choi, Byung Ok Choi, Hyung Jun Park, Se Hoon Kim, Bo Ram Yoon, Seung Min Kim
Publikováno v:
Journal of Clinical Neurology (Seoul, Korea)
Background We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. Case Report The affected individuals presented with slowly progressive prox
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b8e41fb720bee127ab3e83b29a2bd6
https://doi.org/10.3988/jcn.2015.11.2.183
https://doi.org/10.3988/jcn.2015.11.2.183
Autor:
Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi
Publikováno v:
Orphanet Journal of Rare Diseases; 2013, Vol. 8 Issue 1, p1-11, 11p, 1 Black and White Photograph, 4 Charts, 4 Graphs