Results
|
|
61.
|
|
|
|
62.
|
|
|
|
63.
|
|
|
|
64.
|
|
|
|
65.
|
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer. [electronic resource] by
- Boichard, A
- Venet, L
- Naas, T
- Boutron, A
- Chevret, L
- de Baulny, H Ogier
- De Lonlay, P
- Legrand, A
- Nordman, P
- Brivet, M
Producer: 20080519
In:
Molecular genetics and metabolism vol. 93
Availability: No items available.
|
|
|
66.
|
|
|
|
67.
|
|
|
|
68.
|
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency]. [electronic resource] by
- Wu, Mo-Ling
- Liu, Li
- Mao, Xiao-Jian
- Peng, Min-Zhi
- Liu, Hong-Sheng
- Sheng, Hui-Ying
- Cai, Yan-Na
- Mei, Hui-Fen
- Fan, Chun
- Huang, Yong-Lan
- Li, Xiu-Zhen
- Cheng, Jing
Producer: 20160107
In:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics vol. 17
Availability: No items available.
|
|
|
69.
|
|
|
|
70.
|
|
|
|
71.
|
|
|
|
72.
|
|
|
|
73.
|
|
|
|
74.
|
|
|
|
75.
|
|
|
|
76.
|
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. [electronic resource] by
- Stranneheim, Henrik
- Engvall, Martin
- Naess, Karin
- Lesko, Nicole
- Larsson, Pontus
- Dahlberg, Mats
- Andeer, Robin
- Wredenberg, Anna
- Freyer, Chris
- Barbaro, Michela
- Bruhn, Helene
- Emahazion, Tesfail
- Magnusson, Måns
- Wibom, Rolf
- Zetterström, Rolf H
- Wirta, Valtteri
- von Döbeln, Ulrika
- Wedell, Anna
Producer: 20160222
In:
BMC genomics vol. 15
Availability: No items available.
|
|
|
77.
|
|
|
|
78.
|
|
|
|
79.
|
|
|
|
80.
|
|