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Is dandy-walker malformation associated with distal 13q deletion syndrome? Findings in a fetus supporting previous observationsALANAY, Yasemin; AKTAS, Dilek; UTINE, Eda et al.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 265-268, issn 0148-7299, 4 p.Article

Histologic characteristics of the human prepuce pertaining to its clinical behavior as a dual graftTUNCALI, Dogan; BINGUL, Ferruh; TALIM, Beril et al.Annals of plastic surgery. 2005, Vol 54, Num 2, pp 191-195, issn 0148-7043, 5 p.Article

Severe lethal spinal muscular atrophy variant with arthrogryposisKIZILATES, Sevim Ünal; TALIM, Beril; SEL, Kutay et al.Pediatric neurology. 2005, Vol 32, Num 3, pp 201-204, issn 0887-8994, 4 p.Article

Early prednisone treatment in Duchenne muscular dystrophyMERLINI, Luciano; CICOGNANI, Alessandro; MALASPINA, Elisabetta et al.Muscle & nerve. 2003, Vol 27, Num 2, pp 222-227, issn 0148-639X, 6 p.Article

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular DystrophyGUNDESLI, Hulya; TALIM, Beril; KORKUSUZ, Petek et al.American journal of human genetics. 2010, Vol 87, Num 6, pp 834-841, issn 0002-9297, 8 p.Article

Renal oncocytoma : Diagnostic and therapeutic aspectsCIFTCI, Arbay O; TALIM, Beril; SENOCAK, Mehmet E et al.Journal of pediatric surgery. 2000, Vol 35, Num 9, pp 1396-1398, issn 0022-3468Conference Paper

Childhood diffuse panbronchiolitis : A case reportASIAN, Ayse Tana; OZCELIK, Ugur; TALIM, Beril et al.Pediatric pulmonology. 2005, Vol 40, Num 4, pp 354-357, issn 8755-6863, 4 p.Article

Vesiculopustular Eruption in Neonatal Transient Myeloproliferative DisorderNAR, Iraz; SURMELI-ONAY, Ozge; AYTAC, Selin et al.Indian journal of pediatrics. 2014, Vol 81, Num 4, pp 391-393, issn 0019-5456, 3 p.Article

Dominant and recessive COL6A1 mutations in ullrich scleroatonic muscular dystrophyGIUSTI, Betti; LUCARINI, Laura; ROELENS, Filip et al.Annals of neurology. 2005, Vol 58, Num 3, pp 400-410, issn 0364-5134, 11 p.Article

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTAYLOR, Robert W; PYLE, Angela; YARHAM, John W et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 1, pp 68-77, issn 0098-7484, 10 p.Article

Calpain-3 mutations in TurkeyBALCI, Burcu; AURINO, Stefania; TOPALOGLU, Haluk et al.European journal of pediatrics. 2006, Vol 165, Num 5, pp 293-298, issn 0340-6199, 6 p.Article

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish originLEHTOKARI, Vilma-Lotta; PELIN, Katarina; DONNER, Kati et al.European journal of human genetics. 2008, Vol 16, Num 9, pp 1055-1061, issn 1018-4813, 7 p.Article

Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseTANIGUCHI, Kiyomi; KOBAYASHI, Kazuhiro; FALSAPERLA, Raffaele et al.Human molecular genetics (Print). 2003, Vol 12, Num 5, pp 527-534, issn 0964-6906, 8 p.Article

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine BiosynthesisMITSUHASHI, Satomi; OHKUMA, Aya; GOTO, Kanako et al.American journal of human genetics. 2011, Vol 88, Num 6, pp 845-851, issn 0002-9297, 7 p.Article

A Dystroglycan Mutation Associated with Limb-Girdle Muscular DystrophyHARA, Yuji; BALCI-HAYTA, Burcu; KUNZ, Stefan et al.The New England journal of medicine. 2011, Vol 364, Num 10, pp 939-946, issn 0028-4793, 8 p.Article

Brain Involvement in Muscular Dystrophies with Defective Dystroglycan GlycosylationCLEMENT, Emma; MERCURI, Eugenio; COWAN, Frances et al.Annals of neurology. 2008, Vol 64, Num 5, pp 573-582, issn 0364-5134, 10 p.Article

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneGEMPEL, Klaus; TOPALOGLU, Haluk; HIRANO, Michio et al.Brain. 2007, Vol 130, pp 2037-2044, issn 0006-8950, 8 p., 8Article