Belma Haliloğlu

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Elisa De Franco, Maria Lytrivi, Hazem Ibrahim et al. · Journal of Clinical Investigation · 2020 · 92 citations · Full text

Medicine, Endocrinology, Molecular Genetics +14

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

Ahmet Arman, Abdullah Bereket, Ajda Çoker Gürkan et al. · Orphanet Journal of Rare Diseases · 2014 · 46 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet

Zeynep Atay, Abdullah Bereket, Belma Haliloğlu et al. · Bone · 2014 · 39 citations · Full text

Medicine, Endocrinology, Genetics +14

Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children

Serpil Baş, Tülay Güran, Zeynep Atay et al. · Hormone Research in Paediatrics · 2015 · 38 citations · Full text

Medicine, Endocrinology, Pediatrics +10

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations

Emregül Işık, Belma Haliloğlu, Jaap van Doorn et al. · European Journal of Endocrinology · 2017 · 34 citations · Full text

Medicine, Endocrinology, Genetics +17