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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. [electronic resource] by
- Szigeti, K
- Wong, L-J C
- Perng, C-L
- Saifi, G M
- Eldin, K
- Adesina, A M
- Cass, D L
- Hirano, M
- Lupski, J R
- Scaglia, F
Producer: 20040223
In:
Journal of medical genetics vol. 41
Availability: No items available.
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. [electronic resource] by
- Claramunt, R
- Pedrola, L
- Sevilla, T
- López de Munain, A
- Berciano, J
- Cuesta, A
- Sánchez-Navarro, B
- Millán, J M
- Saifi, G M
- Lupski, J R
- Vílchez, J J
- Espinós, C
- Palau, F
Producer: 20060803
In:
Journal of medical genetics vol. 42
Availability: No items available.
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6.
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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. [electronic resource] by
- Straussberg, R
- Basel-Vanagaite, L
- Kivity, S
- Dabby, R
- Cirak, S
- Nurnberg, P
- Voit, T
- Mahajnah, M
- Inbar, D
- Saifi, G M
- Lupski, J R
- Delague, V
- Megarbane, A
- Richter, A
- Leshinsky, E
- Berkovic, S F
Producer: 20050927
In:
Neurology vol. 64
Availability: No items available.
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