Altuğ Koç

Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 106 citations · Full text

Life Sciences, Genetics, Neuroscience +17

An unexpected finding in a child with neurological problems: mosaic ring chromosome 18

Altuğ Koç, Kadri Karaer, Mehmet Ali Ergün et al. · European Journal of Pediatrics · 2007 · 87 citations

Life Sciences, Genetics, Pediatrics +16

Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound

Altuğ Koç, Elif Pala, Mehmet Erdem et al. · Journal of obstetrics and gynaecology research · 2009 · 77 citations

Life Sciences, Genetics, Obstetrics +17

Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly

C. Gezer, Atalay Ekin, Mehmet Özeren et al. · Journal of Obstetrics and Gynaecology · 2014 · 41 citations

Life Sciences, Genetics, Obstetrics +17

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

Taha Reşid Özdemir, Özgür Kırbıyık, Bumin Nuri Dündar et al. · Journal of Pediatric Endocrinology and Metabolism · 2018 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17