Yazar "Okur, Murat" seçeneğine göre listele

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    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 Halit
    Megalencephalic 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.
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    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 Halit
    Megalencephalic 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.
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    Paradoxal aspects in circumcision
    (2013) Özkan, Aybars; Kaya, Murat; Okur, Murat; Türker, Y.
    [No abstract available]