Results
|
|
161.
|
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. [electronic resource] by
- Arikawa-Hirasawa, Eri
- Le, Alexander H
- Nishino, Ichizo
- Nonaka, Ikuya
- Ho, Nicola C
- Francomano, Clair A
- Govindraj, Prasanthi
- Hassell, John R
- Devaney, Joseph M
- Spranger, Jürgen
- Stevenson, Roger E
- Iannaccone, Susan
- Dalakas, Marinos C
- Yamada, Yoshihiko
Producer: 20020523
In:
American journal of human genetics vol. 70
Availability: No items available.
|
|
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162.
|
|
|
|
163.
|
|
|
|
164.
|
|
|
|
165.
|
|
|
|
166.
|
|
|
|
167.
|
|
|
|
168.
|
Successful long-term therapy with flecainide in a family with paramyotonia congenita. [electronic resource] by
- Terracciano, Chiara
- Farina, Olimpia
- Esposito, Teresa
- Lombardi, Luca
- Napolitano, Filomena
- Blasiis, Paolo De
- Ciccone, Gianluca
- Todisco, Vincenzo
- Tuccillo, Francesco
- Bernardini, Sergio
- Di Iorio, Giuseppe
- Melone, Mariarosa Anna Beatrice
- Sampaolo, Simone
Producer: 20191003
In:
Journal of neurology, neurosurgery, and psychiatry vol. 89
Availability: No items available.
|
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169.
|
|
|
|
170.
|
|
|
|
171.
|
|
|
|
172.
|
|
|
|
173.
|
|
|
|
174.
|
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. [electronic resource] by
- Matthews, E
- Tan, S V
- Fialho, D
- Sweeney, M G
- Sud, R
- Haworth, A
- Stanley, E
- Cea, G
- Davis, M B
- Hanna, M G
Producer: 20080207
In:
Neurology vol. 70
Availability: No items available.
|
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175.
|
|
|
|
176.
|
|
|
|
177.
|
|
|
|
178.
|
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita. [electronic resource] by
- Ke, Qing
- Ye, Jia
- Tang, Siyang
- Wang, Jin
- Luo, Benyan
- Ji, Fang
- Zhang, Xu
- Yu, Ye
- Cheng, Xiaoyang
- Li, Yuezhou
Producer: 20180625
In:
The Journal of physiology vol. 595
Availability: No items available.
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179.
|
|
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180.
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