Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Gui-ling Mo"'
Autor:
Ding-bang CHEN, Chao WU, Li FENG, Gui-ling MO, Bing LIAO, Da-wei LIU, Jin-lang WU, Qiang WU, Xun-hua LI
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 14, Iss 6, Pp 485-489 (2014)
Objective To study the muscular pathological characteristics in riboflavin-responsive lipid storage myopathy before and after treatment. Methods A 10-year follow-up visit was made on a patient with riboflavin-responsive lipid storage myopathy, and th
Externí odkaz:
https://doaj.org/article/867ba418ff974c5f8f3d3bec52a84f03
Autor:
Juan YANG, Ji-qing CAO, Zhen-hua LIU, Yi-xin ZHAN, Ying-yin LIANG, Gui-ling MO, Ya-qin LI, Yi-ming SUN, Min-zi LI, Jing LI, Cheng ZHANG
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 14, Iss 5, Pp 405-410 (2014)
Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ. Methods Clinical data of 7 patien
Externí odkaz:
https://doaj.org/article/e6308a0d0ff94917b03389c7e0c5554b
Publikováno v:
Transl Pediatr
Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. Thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0a5bd3c518b6f781e75cf9ca19e7f1
https://doi.org/10.21037/tp-20-138
https://doi.org/10.21037/tp-20-138
Publikováno v:
Transl Pediatr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd1535e3f6f48326cc47d753bc514b19
https://doi.org/10.21037/tp-21-199
https://doi.org/10.21037/tp-21-199
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The presence of more than one polyQ‐related gene within a single individual is a rare incidence, which may provide the potential opportunity to study the combined effects of these spinocerebellar ataxia (SCA) genes. Methods We retrospect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef49bc3b027556676bcb68b9f04a31f
https://doi.org/10.1002/mgg3.663
https://doi.org/10.1002/mgg3.663
Autor:
Gui Ling Mo, Wenli Feng, Yi Xin Zhan, Ya Juan Li, Zong Ping Mo, Zheng Yu Zeng, Chaohui Hu, Chang Shun Yu, Wei Xi Cao
Publikováno v:
Clinical chemistry and laboratory medicine. 50(4)
Background The aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb72ecec6cd3dfcaed7ccf9892ce496
https://pubmed.ncbi.nlm.nih.gov/22505528
https://pubmed.ncbi.nlm.nih.gov/22505528