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An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. [electronic resource] by
- Balci, Burcu
- Uyanik, Gökhan
- Dincer, Pervin
- Gross, Claudia
- Willer, Tobias
- Talim, Beril
- Haliloglu, Göknur
- Kale, Gülsev
- Hehr, Ute
- Winkler, Jürgen
- Topaloğlu, Haluk
Producer: 20050613
In:
Neuromuscular disorders : NMD vol. 15
Availability: No items available.
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14.
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A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. [electronic resource] by
- Cetin, Nilgun
- Balci-Hayta, Burcu
- Gundesli, Hulya
- Korkusuz, Petek
- Purali, Nuhan
- Talim, Beril
- Tan, Ersin
- Selcen, Duygu
- Erdem-Ozdamar, Sevim
- Dincer, Pervin
Producer: 20140214
In:
Journal of medical genetics vol. 50
Availability: No items available.
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15.
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Calpain-3 mutations in Turkey. [electronic resource] by
- Balci, Burcu
- Aurino, Stefania
- Haliloglu, Göknur
- Talim, Beril
- Erdem, Sevim
- Akcören, Zuhal
- Tan, Ersin
- Caglar, Melda
- Richard, Isabelle
- Nigro, Vincenzo
- Topaloglu, Haluk
- Dincer, Pervin
Producer: 20061121
In:
European journal of pediatrics vol. 165
Availability: No items available.
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16.
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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. [electronic resource] by
- Kayman-Kurekci, Gulsum
- Talim, Beril
- Korkusuz, Petek
- Sayar, Nilufer
- Sarioglu, Turkan
- Oncel, Ibrahim
- Sharafi, Parisa
- Gundesli, Hulya
- Balci-Hayta, Burcu
- Purali, Nuhan
- Serdaroglu-Oflazer, Piraye
- Topaloglu, Haluk
- Dincer, Pervin
Producer: 20150116
In:
Neuromuscular disorders : NMD vol. 24
Availability: No items available.
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17.
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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. [electronic resource] by
- Dinçer, Pervin
- Balci, Burcu
- Yuva, Yeliz
- Talim, Beril
- Brockington, Martin
- Dinçel, Deniz
- Torelli, Silvia
- Brown, Sue
- Kale, Gülsev
- Haliloglu, Göknur
- Gerçeker, Filiz Ozbas
- Atalay, Rengül Cetin
- Yakicier, Cengiz
- Longman, Cheryl
- Muntoni, Francesco
- Topaloglu, Haluk
Producer: 20040226
In:
Neuromuscular disorders : NMD vol. 13
Availability: No items available.
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18.
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A dystroglycan mutation associated with limb-girdle muscular dystrophy. [electronic resource] by
- Hara, Yuji
- Balci-Hayta, Burcu
- Yoshida-Moriguchi, Takako
- Kanagawa, Motoi
- Beltrán-Valero de Bernabé, Daniel
- Gündeşli, Hülya
- Willer, Tobias
- Satz, Jakob S
- Crawford, Robert W
- Burden, Steven J
- Kunz, Stefan
- Oldstone, Michael B A
- Accardi, Alessio
- Talim, Beril
- Muntoni, Francesco
- Topaloğlu, Haluk
- Dinçer, Pervin
- Campbell, Kevin P
Producer: 20110322
In:
The New England journal of medicine vol. 364
Availability: No items available.
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