A case of acute post-streptococcal glomerulonephritis that developed posterior reversible encephalopathy syndrome

Por Kasap, Belde, Çarman, Kürşat Bora, Yiş, Uluç
Publicado no Turk Pediatri Ars (2014)

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 em 2011

Obstructive hydrocephalus resulting from cerebral venous thrombosis

Por Leblebisatan, Göksel, Yiş, Uluç, Doğan, Mustafa, Derundere, Ümit
Publicado em 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 em 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 no Neurosciences (Riyadh) (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 no J Pediatr Neurosci (2015)

Schwartz–Jampel syndrome with gastroduodenal bleeding

Por Polat, İpek, Karaoğlu, Pakize, Yiş, Uluç, Kurul, Semra Hız
Publicado no J Pediatr Neurosci (2016)

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 em 2013

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl

Por Topcu, Yasemin, Bayram, Erhan, Karaoglu, Pakize, Yis, Uluc, Kurul, Semra Hız
Publicado em 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 no Ann Indian Acad Neurol (2014)

Importance of acrocyanosis in delayed walking

Por Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra
Publicado no J Pediatr Neurosci (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 no Biomed Res Int (2016)

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 em 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 em 2010

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Por Rohrbach, Marianne, Vandersteen, Anthony, Yiş, Uluç, Serdaroglu, Gul, Ataman, Esra, Chopra, Maya, Garcia, Sixto, Jones, Kristi, Kariminejad, Ariana, Kraenzlin, Marius, Marcelis, Carlo, Baumgartner, Matthias, Giunta, Cecilia
Publicado em 2011

Genetic Landscape of congenital myasthenic syndromes from Turkey: Novel mutations and clinical insights

Por Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G.
Publicado no J Child Neurol (2017)

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F.
Publicado no Orphanet J Rare Dis (2016)

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Por de Kovel, Carolien G. F., Syrbe, Steffen, Brilstra, Eva H., Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K., Krok, Bryan L., Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R., van den Boogaardt, Marie-José, Møller, Rikke S., Koeleman, Bobby P. C.
Publicado no JAMA Neurol (2017)