Results
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2101.
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2102.
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2103.
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Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. [electronic resource] by
- Guo, Bi-Rong
- Zhang, Xin
- Chen, Gang
- Zhang, Jian-Guo
- Sun, Liang-Dan
- Du, Wei-Dong
- Zhang, Qing
- Cui, Yong
- Zhu, Jun
- Tang, Xian-Fa
- Xiao, Ruo
- Liu, Yuan
- Li, Min
- Tang, Hua-Yang
- Yang, Xu
- Cheng, Hui
- Li, Ming
- Gao, Min
- Li, Ping
- Wang, Jian-Bo
- Xu, Feng-Ping
- Zuo, Xian-Bo
- Zheng, Xiao-Dong
- Zhang, Xiao-Guang
- Yang, Lin
- Liu, Jian-Jun
- Wang, Jun
- Yang, Sen
- Zhang, Xue-Jun
Producer: 20130509
In:
Journal of medical genetics vol. 49
Availability: No items available.
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2104.
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2105.
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2106.
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2107.
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2108.
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2109.
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2110.
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2111.
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2112.
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2113.
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Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. [electronic resource] by
- Adeyo, Oludotun
- Allan, Bernard B
- Barnes, Richard H
- Goulbourne, Chris N
- Tatar, Angelica
- Tu, Yiping
- Young, Lorraine C
- Weinstein, Michael M
- Tontonoz, Peter
- Fong, Loren G
- Beigneux, Anne P
- Young, Stephen G
Producer: 20140710
In:
The Journal of investigative dermatology vol. 134
Availability: No items available.
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2114.
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2115.
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2116.
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2117.
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2118.
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CEDNIK syndrome results from loss-of-function mutations in SNAP29. [electronic resource] by
- Fuchs-Telem, D
- Stewart, H
- Rapaport, D
- Nousbeck, J
- Gat, A
- Gini, M
- Lugassy, Y
- Emmert, S
- Eckl, K
- Hennies, H C
- Sarig, O
- Goldsher, D
- Meilik, B
- Ishida-Yamamoto, A
- Horowitz, M
- Sprecher, E
Producer: 20110517
In:
The British journal of dermatology vol. 164
Availability: No items available.
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2119.
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Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. [electronic resource] by
- Gruber, Robert
- Rogerson, Clare
- Windpassinger, Christian
- Banushi, Blerida
- Straatman-Iwanowska, Anna
- Hanley, Joanna
- Forneris, Federico
- Strohal, Robert
- Ulz, Peter
- Crumrine, Debra
- Menon, Gopinathan K
- Blunder, Stefan
- Schmuth, Matthias
- Müller, Thomas
- Smith, Holly
- Mills, Kevin
- Kroisel, Peter
- Janecke, Andreas R
- Gissen, Paul
Producer: 20170719
In:
The Journal of investigative dermatology vol. 137
Availability: No items available.
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2120.
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