Publications by authors named "Mustafa Batbayli"

Claim this Profile
S
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Mustafa Batbayli

J Inherit Metab Dis· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
Elsebet Ostergaard, Frodi Joensen, Karin Sundberg, Morten Duno, Flemming J Hansen, Mustafa Batbayli

Acta Paediatr· November 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Elsebet Ostergaard, Richard J Rodenburg, Mariël van den Brand, Lise Lykke Thomsen, Morten Duno, Mustafa Batbayli

J Med Genet· November 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
Elsebet Ostergaard, Morten Duno, Mustafa Batbayli, Kaj Vilhelmsen, Thomas Rosenberg

Mol Vis· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Elsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson

Eur J Pediatr· February 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.
Suzanne Granhøj Lindquist, Jørgen Erik Nielsen, Jette Stokholm, Marianne Schwartz, Mustafa Batbayli

J Neurol Sci· May 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis