Göknur Haliloğlu

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

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

Gökhan Uyanık, Pervin Dinçer, Tobias Willer et al. · Neuromuscular Disorders · 2005 · 178 citations

Mendelian Disorder, Genetic Disorder, Genetics +9