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Beril Talim

Showing results (71-80 of 118) with videos related to

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Journal of Neuromuscular Diseases|January 9, 2023
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based ReviewSeher Sener, Ezgi Deniz Batu, Seher Sari, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
Neuromuscular Disorders : NMD|March 29, 2005
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 geneBurcu Balci, Gökhan Uyanik, Pervin Dincer, et al.
Journal of Medical Genetics|May 21, 2013
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathiesNilgun Cetin, Burcu Balci-Hayta, Hulya Gundesli, et al.
Archives of Neurology|February 16, 2006
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsEugenio Mercuri, Haluk Topaloglu, Martin Brockington, et al.
The American Journal of Pathology|July 11, 2020
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular DystrophiesEvrim Aksu-Menges, Yeliz Z Akkaya-Ulum, Didem Dayangac-Erden, et al.
Journal of Human Genetics|December 16, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGoknur Haliloglu, Kerstin Becker, Cagri Temucin, et al.
Pediatric Hematology and Oncology|July 7, 2007
Extranodal type T/NK-cell lymphoma with an atypical clinical presentationG Burça Aydin, Canan Akyuz, Beril Talim, et al.
Neuromuscular Disorders : NMD|May 28, 2024
Further expanding the phenotype of anti-Ku antibody associated disease in children and adolescentsEzgi Deniz Batu, Seher Şener, Göknur Haliloğlu, et al.
European Journal of Pediatrics|January 18, 2006
Calpain-3 mutations in TurkeyBurcu Balci, Stefania Aurino, Göknur Haliloglu, et al.
Pageof 12

Showing results (71-80 of 118) with videos related to

Sort By:
Pageof 12
Journal of Neuromuscular Diseases|January 9, 2023
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based ReviewSeher Sener, Ezgi Deniz Batu, Seher Sari, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
Neuromuscular Disorders : NMD|March 29, 2005
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 geneBurcu Balci, Gökhan Uyanik, Pervin Dincer, et al.
Journal of Medical Genetics|May 21, 2013
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathiesNilgun Cetin, Burcu Balci-Hayta, Hulya Gundesli, et al.
Archives of Neurology|February 16, 2006
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsEugenio Mercuri, Haluk Topaloglu, Martin Brockington, et al.
The American Journal of Pathology|July 11, 2020
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular DystrophiesEvrim Aksu-Menges, Yeliz Z Akkaya-Ulum, Didem Dayangac-Erden, et al.
Journal of Human Genetics|December 16, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGoknur Haliloglu, Kerstin Becker, Cagri Temucin, et al.
Pediatric Hematology and Oncology|July 7, 2007
Extranodal type T/NK-cell lymphoma with an atypical clinical presentationG Burça Aydin, Canan Akyuz, Beril Talim, et al.
Neuromuscular Disorders : NMD|May 28, 2024
Further expanding the phenotype of anti-Ku antibody associated disease in children and adolescentsEzgi Deniz Batu, Seher Şener, Göknur Haliloğlu, et al.
European Journal of Pediatrics|January 18, 2006
Calpain-3 mutations in TurkeyBurcu Balci, Stefania Aurino, Göknur Haliloglu, et al.
Pageof 12