Melis Köse

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh et al. · The Lancet · 2022 · 207 citations · Full text

Life Sciences, Cardiology, Genetics +13

Single center experience of biotinidase deficiency: 259 patients and six novel mutations

Ebru Canda, Esra Er, Melis Köse et al. · Journal of Pediatric Endocrinology and Metabolism · 2018 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry)

Meral Kayıkçıoğlu, Lâle Tokgözoğlu, Leylagül Kaynar et al. · Atherosclerosis · 2018 · 34 citations

Life Sciences, Genetics, Hematology +14

Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia

Janneke W.C.M. Mulder, Tycho R. Tromp, Mutaz Al-Khnifsawi et al. · JAMA Cardiology · 2024 · 29 citations · Full text

Medicine, Cardiology, Genetics +17

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani et al. · Genetics in Medicine · 2022 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17