Results
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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. [electronic resource] by
- Jouet, M
- Rosenthal, A
- Armstrong, G
- MacFarlane, J
- Stevenson, R
- Paterson, J
- Metzenberg, A
- Ionasescu, V
- Temple, K
- Kenwrick, S
Producer: 19941117
In:
Nature genetics vol. 7
Availability: No items available.
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126.
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127.
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128.
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129.
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Sex-dependent rearrangements resulting in CMT1A and HNPP. [electronic resource] by
- Lopes, J
- Vandenberghe, A
- Tardieu, S
- Ionasescu, V
- Lévy, N
- Wood, N
- Tachi, N
- Bouche, P
- Latour, P
- Brice, A
- LeGuern, E
Producer: 19971114
In:
Nature genetics vol. 17
Availability: No items available.
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130.
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131.
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Localization of the gene for X-linked spinal muscular atrophy. [electronic resource] by
- Fischbeck, K H
- Ionasescu, V
- Ritter, A W
- Ionasescu, R
- Davies, K
- Ball, S
- Bosch, P
- Burns, T
- Hausmanowa-Petrusewicz, I
- Borkowska, J
Producer: 19870105
In:
Neurology vol. 36
Availability: No items available.
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132.
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The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies. [electronic resource] by
- Matsumura, K
- Ohlendieck, K
- Ionasescu, V V
- Tomé, F M
- Nonaka, I
- Burghes, A H
- Mora, M
- Kaplan, J C
- Fardeau, M
- Campbell, K P
Producer: 19940623
In:
Neuromuscular disorders : NMD vol. 3
Availability: No items available.
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133.
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Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. [electronic resource] by
- Matsumura, K
- Tomé, F M
- Ionasescu, V
- Ervasti, J M
- Anderson, R D
- Romero, N B
- Simon, D
- Récan, D
- Kaplan, J C
- Fardeau, M
Producer: 19930915
In:
The Journal of clinical investigation vol. 92
Availability: No items available.
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134.
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135.
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Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. [electronic resource] by
- Fischbeck, K H
- Ritter, A W
- Tirschwell, D L
- Kunkel, L M
- Bertelson, C J
- Monaco, A P
- Hejtmancik, J F
- Boehm, C
- Ionasescu, V
- Ionasescu, R
Producer: 19860811
In:
Lancet (London, England) vol. 2
Availability: No items available.
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136.
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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. [electronic resource] by
- Lopes, J
- Ravisé, N
- Vandenberghe, A
- Palau, F
- Ionasescu, V
- Mayer, M
- Lévy, N
- Wood, N
- Tachi, N
- Bouche, P
- Latour, P
- Ruberg, M
- Brice, A
- LeGuern, E
Producer: 19980226
In:
Human molecular genetics vol. 7
Availability: No items available.
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137.
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Dominantly inherited dilated cardiomyopathy. [electronic resource] by
- Gardner, R J
- Hanson, J W
- Ionasescu, V V
- Ardinger, H H
- Skorton, D J
- Mahoney, L T
- Hart, M N
- Rose, E F
- Smith, W L
- Florentine, M S
Producer: 19870724
In:
American journal of medical genetics vol. 27
Availability: No items available.
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138.
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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. [electronic resource] by
- Kunkel, L M
- Hejtmancik, J F
- Caskey, C T
- Speer, A
- Monaco, A P
- Middlesworth, W
- Colletti, C A
- Bertelson, C
- Müller, U
- Bresnan, M
- Shapiro, F
- Tantravahi, U
- Speer, J
- Latt, S A
- Bartlett, R
- Pericak-Vance, M A
- Roses, A D
- Thompson, M W
- Ray, P N
- Worton, R G
- Fischbeck, K H
- Gallano, P
- Coulon, M
- Duros, C
- Boue, J
- Junien, C
- Chelly, J
- Hamard, G
- Jeanpierre, M
- Lambert, M
- Kaplan, J C
- Emery, A
- Dorkins, H
- McGlade, S
- Davies, K E
- Boehm, C
- Arveiler, B
- Lemaire, C
- Morgan, G J
- Denton, M J
- Amos, J
- Bobrow, M
- Benham, F
- Boswinkel, E
- Cole, C
- Dubowitz, V
- Hart, K
- Hodgson, S
- Johnson, L
- Walker, A
- Roncuzzi, L
- Ferlini, A
- Nobile, C
- Romeo, G
- Wilcox, D E
- Affara, N A
- Ferguson-Smith, M A
- Lindolf, M
- Kaariainen, H
- de la Chapelle, A
- Ionasescu, V
- Searby, C
- Ionasescu, R
- Bakker, E
- van Ommen, G J
- Pearson, P L
- Greenberg, C R
- Hamerton, J L
- Wrogemann, K
- Doherty, R A
- Polakowska, R
- Hyser, C
- Quirk, S
- Thomas, N
- Harper, J F
- Darras, B T
- Francke, U
Producer: 19860815
In:
Nature vol. 322
Availability: No items available.
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