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 glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

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

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

Aicardi syndrome in two Turkish children

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

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

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

VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain

por HIZ, Semra, KILIÇ, Seval, BADEMCİ, Güney, KARAKULAK, Tülay, ERDOĞAN, Aybike, ÖZDEN, Burcu, ERESEN, Çiğdem, ERDAL, Esra, YİŞ, Uluç, TEKİN, Mustafa, KARAKÜLAH, Gökhan, KARACA, Ezgi, ÖZTÜRK, Mehmet
Publicado 2022

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

por Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Publicado 2019

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

por Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Publicado 2022

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

por YİŞ, ULUÇ, DİNİZ, GÜLDEN, HAZAN, FILIZ, DAİMAGÜLER, HÜLYA SEVCAN, BAYSAL, BAHAR TOKLU, BAYDAN, FIGEN, AKINCI, GÜLÇIN, ÜNALP, AYCAN, AKTAN, GÜL, BAYRAM, ERHAN, HIZ, SEMRA, PAKETÇİ, CEM, OKUR, DERYA, ÖZER, ERDENER, DANYELİ, AYÇA ERSEN, POLAT, MUZAFFER, UYANIK, GÖKHAN, ÇIRAK, SEBAHATTIN
Publicado 2018

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

por Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Publicado 2020

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

por Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Publicado 2020

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

por Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, José Luiz, Maroofian, Reza
Publicado 2022