Aicardi syndrome in two Turkish children

por Bayram, Erhan, Topcu, Yasemin, Akinci, Gulcin, Hiz, Semra, Cakmakci, Handan
Publicado 2013

The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome

por Topcu, Yasemin, Bayram, Erhan, Karaoglu, Pakize, Yis, Uluc, Kurul, Semra Hiz
Publicado 2013

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl

por Topcu, Yasemin, Bayram, Erhan, Karaoglu, Pakize, Yis, Uluc, Kurul, Semra Hız
Publicado 2013

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases

por Topçu, Yasemin, Bayram, Erhan, Karaoğlu, Pakize, Yiş, Uluç, Kurul, Semra Hız
Publicado 2014

Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent

por Topcu, Yasemin, Bayram, Erhan, Karaoglu, Pakize, Yis, Uluc, Guleryuz, Handan, Kurul, Semra Hiz
Publicado 2013

Unusual cause of hyperammonemia in two cases with short-term and long-term valproate therapy successfully treated by single dose carglumic acid

por Kasapkara, Çiğdem Seher, Kanğın, Murat, Taş, Funda Feryal, Topçu, Yasemin, Demir, Remezan, Özbek, Mehmet Nuri
Publicado 2013

Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish...

por Ozturk, Gulten, Ayaz, Akif, Topcu, Yasemin, Akyuz, Gülcan, Unver, Olcay, Akbeyaz, Ismail Hakk, Ekinci, Gazanfer, Turkdogan, Dilsad
Publicado 2022

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

por Gerlevik, Umut, Saygı, Ceren, Cangül, Hakan, Kutlu, Aslı, Çaralan, Erdal Fırat, Topçu, Yasemin, Özören, Nesrin, Sezerman, Osman Uğur
Publicado 2022