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2881.
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2882.
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2883.
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2884.
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Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. [electronic resource] by
- Wang, Tao
- Xu, Chenchen
- Zhou, Xiping
- Li, Chunjia
- Zhang, Hongbing
- Lian, Bill Q
- Lee, Jonathan J
- Shen, Jun
- Liu, Yuehua
- Lian, Christine Guo
Producer: 20160617
In:
International journal of molecular sciences vol. 16
Availability: No items available.
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2885.
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Identification of transforming hepatitis B virus S gene nonsense mutations derived from freely replicative viruses in hepatocellular carcinoma. [electronic resource] by
- Huang, Shiu-Feng
- Chen, Ya-Ting
- Lee, Wei-Chen
- Chang, Il-Chi
- Chiu, Yu-Ting
- Chang, Yu
- Tu, Hsiao-Chen
- Yuh, Chiou-Hwa
- Matsuura, Isao
- Shih, Liang-Yu
- Lai, Ming-Wei
- Wu, Hong-Dar Isaac
- Chen, Miin-Fu
- Yeh, Chau-Ting
Producer: 20150122
In:
PloS one vol. 9
Availability: No items available.
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2886.
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Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. [electronic resource] by
- Guo, H
- Tong, P
- Peng, Y
- Wang, T
- Liu, Y
- Chen, J
- Li, Y
- Tian, Q
- Hu, Y
- Zheng, Y
- Xiao, L
- Xiong, W
- Pan, Q
- Hu, Z
- Xia, K
Producer: 20150724
In:
Clinical genetics vol. 86
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2887.
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2888.
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2889.
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2890.
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2891.
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2892.
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2893.
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Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders. [electronic resource] by
- Ni, Jie
- Yi, Xiaoping
- Liu, Zhen
- Sun, Weining
- Yuan, Yanchun
- Yang, Jie
- Jiang, Hong
- Shen, Lu
- Tang, Beisha
- Liu, Yunhai
- Wang, Junling
Producer: 20200901
In:
Parkinsonism & related disorders vol. 69
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2894.
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Expression of Lmna-R225X nonsense mutation results in dilated cardiomyopathy and conduction disorders (DCM-CD) in mice: Impact of exercise training. [electronic resource] by
- Cai, Zhu-Jun
- Lee, Yee-Ki
- Lau, Yee-Man
- Ho, Jenny Chung-Yee
- Lai, Wing-Hon
- Wong, Navy Lai-Yung
- Huang, Duo
- Hai, Jo-Jo
- Ng, Kwong-Man
- Tse, Hung-Fat
- Siu, Chung-Wah
Producer: 20201123
In:
International journal of cardiology vol. 298
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2895.
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2896.
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2897.
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2898.
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Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. [electronic resource] by
- Maréchal, Lucie
- Raux, Grégory
- Dumanchin, Cécile
- Lefebvre, Guillaume
- Deslandre, Emmanuelle
- Girard, Carole
- Campion, Dominique
- Parain, Dominique
- Frebourg, Thierry
- Hannequin, Didier
Producer: 20040206
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 119B
Availability: No items available.
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2899.
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2900.
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