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Öğe MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, MEMO SER FSX11) ON EXON 6 OF MLC1 GENE(Medecine Et Hygiene, 2015) Soysal, Zeyneb; Okur, Murat; Eröz, Recep; Gün, Emrah; Kocabay, Kenan; Beşir, Fahri HalitMegalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc, p. leu150 ser fsx11) on exon 6 of MLC1 gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leu150 ser fsX11) on exon 6 of MLC1 gene is presented.Öğe Megalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (C.448DELC, P.LEU150 SER FSX11) on exon 6 of MLC1 gene(Editions Medecine et Hygiene, 2015) Soysal, Zeyneb; Okur, Murat; Eröz, Recep; Gün, Emrah; Kocabay, Kenan; Beşir, Fahri HalitMegalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc, p. Ieul 50 ser fsx11) on exon 6 of MLC1 gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leu150 ser fsX11) on exon 6 of MLC1 gene is presented.Öğe Paradoxal aspects in circumcision(2013) Özkan, Aybars; Kaya, Murat; Okur, Murat; Türker, Y.[No abstract available]