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4 results for Batbayli,+Mustafa

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ArticlesPeer ReviewedFull Text
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Author / Creator:Carrozzo, Rosalba ; Verrigni, Daniela ; Rasmussen, Magnhild ; de Coo, Rene ; Amartino, Hernan ; Bianchi, Marzia ; Buhas, Daniela ; Mesli, Samir ; Naess, Karin ; Born, Alfred Peter ; Woldseth, Berit ; Prontera, Paolo ; Batbayli, Mustafa ; Ravn, Kirstine ; Joensen, Fróði ; Cordelli, Duccio M. ; Santorelli, Filippo Maria ; Tulinius, Mar ; Darin, Niklas ; Duno, Morten ; Jouvencel, Philippe ; Burlina, Alberto ; Stangoni, Gabriela ; Bertini, Enrico ; Redonnet-Vernhet, Isabelle ; Wibrand, Flemming ; Dionisi-Vici, Carlo ; Uusimaa, Johanna ; Vieira, Paivi ; Osorio, Andrés Nascimento ; McFarland, Robert ; Taylor, Robert W. ; Holme, Elisabeth ; Ostergaard, Elsebet
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
Author / Creator:Ostergaard, E ; Batbayli, M ; Duno, M ; Vilhelmsen, K ; Rosenberg, T
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-10, Vol.47 (10), p.665-669
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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Author / Creator:Ostergaard, Elsebet ; Schwartz, Marianne ; Batbayli, Mustafa ; Christensen, Ernst ; Hjalmarson, Ola ; Kollberg, Gittan ; Holme, Elisabeth
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-02, Vol.169 (2), p.201-205
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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
Author / Creator:Ostergaard, Elsebet ; Rodenburg, Richard J ; van den Brand, Mariël ; Thomsen, Lise Lykke ; Duno, Morten ; Batbayli, Mustafa ; Wibrand, Flemming ; Nijtmans, Leo
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-11, Vol.48 (11), p.737-740
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

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Export record to excel

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Export this record

Export record to excel

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

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