Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature

por Günay, Çağatay, Kurul, Semra H., Yiş, Uluç
Publicado 2023

Obstructive hydrocephalus resulting from cerebral venous thrombosis

por Leblebisatan, Göksel, Yiş, Uluç, Doğan, Mustafa, Derundere, Ümit
Publicado 2011

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases

por Yiş, Uluç, Hız, Semra, Anal, Özden, Dirik, Eray
Publicado 2011

A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey☆

por Arslan, Mutluay, Yiş, Uluç, Çağlayan, Hande, Akin, Rıdvan
Publicado 2013

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

por Kose, Engin, Yis, Uluc, Hiz, Semra, Arslan, Nur
Publicado 2017

Acanthocytosis and HyperCKemia

por Yiş, Uluç, Becker, Kerstin, Yılmaz, Şebnem, Çırak, Sebahattin
Publicado 2018

Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases

por Karaoğlu, Pakize, Polat, Ayşe İpek, Yiş, Uluç, Hız, Semra
Publicado 2015

Schwartz–Jampel syndrome with gastroduodenal bleeding

por Polat, İpek, Karaoğlu, Pakize, Yiş, Uluç, Kurul, Semra Hız
Publicado 2016

Double Trouble: A Case of DYT-TOR1A Diagnosed in the Postoperative Period

por Uzan, Gamze Sarıkaya, Günay, Çağatay, Kurul, Semra Hız, Yiş, Uluç
Publicado 2023

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

Importance of acrocyanosis in delayed walking

por Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra
Publicado 2015

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

por Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Publicado 2016

Clinical predictors of drug-resistant epilepsy in children

por KARAOĞLU, Pakize, YİŞ, Uluç, POLAT, Ayşe İpek, AYANOĞLU, Müge, HIZ, Semra
Publicado 2021

Blood neurofilament light chain and thrombospondin-1 levels of patients with autism spectrum disorder

por PAKETÇİ, Cem, ERMİŞ, Çağatay, ŞİŞMAN, Ali Rıza, HIZ, Semra, BAYKARA, Burak, YİŞ, Uluç
Publicado 2022

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

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

por Böhm, Johann, Yiş, Uluç, Ortaç, Ragıp, Çakmakçı, Handan, Kurul, Semra Hız, Dirik, Eray, Laporte, Jocelyn
Publicado 2010

Intravenous Levetiracetam for Treatment of Seizures in Term and Preterm Neonates

por Karaoğlu, Pakize, Hız, Semra, İşcan, Burçin, Polat, Ayşe İ, Ayanoğlu, Müge, Duman, Nuray, Yiş’, Uluç
Publicado 2020

Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy

por Gursoy, Semra, Ataman, Esra, Baysal, Bahar Toklu, Özyılmaz, Berk, Gençpınar, Pınar, Hız, Ayşe Semra, Yiş, Uluç, Ünalp, Aycan, Dündar, Nihal Olgaç, Ülgenalp, Ayfer, Erçal, Derya
Publicado 2020