Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis von Lefèvre, Caroline, Bouadjar, Bakar, Karaduman, Aysen, Jobard, Florence, Saker, Safa, Özguc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study von Balci, Banu, Tinaztepe, Keriman, Yilmaz, Engin, Guçer, Şafak, Ozen, Seza, Topaloğlu, Rezan, Beşbaş, Nesrin, Ozguç, Meral, Bakkaloğlu, Ayşin

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l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 von Topçu, Meral, Jobard, Florence, Halliez, Sophie, Coskun, Turgay, Yalçinkayal, Cengiz, Gerceker, Filiz Ozbas, Wanders, Ronald J.A., Prud'homme, Jean-François, Lathrop, Mark, Özguc, Meral, Fischer, Judith

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Biobanking: sample acquisition and quality assurance for ‘omics’ research von Yüzbaşıoğlu, Ayşe, Özgüç, Meral

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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome von Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, Lakhdar, Hakima, Wollenberg, Andreas, Verret, Jean-Luc, Weissenbach, Jean, Özgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Genetic testing: predictive value of genotyping for diagnosis and management of disease von Özgüç, Meral

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 von Jobard, Florence, Lefèvre, Caroline, Karaduman, Aysen, Blanchet-Bardon, Claudine, Emre, Serap, Weissenbach, Jean, Ozgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine von Gülbakan, Basri, Özgül, Rıza Köksal, Yüzbaşıoğlu, Ayşe, Kohl, Matthias, Deigner, Hans-Peter, Özgüç, Meral

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Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population von Yilmaz, E, Ozen, S, Balci, B, Duzova, A, Topaloglu, R, Besbas, N, Saatci, U, Bakkaloglu, A, Ozguc, M

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Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens von Dayangaç, Didem, Erdem, Hayat, Yilmaz, Engin, Şahin, Ahmet, Sohn, Christof, Özgüç, Meral, Dörk, Thilo

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Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis von Dökmeci-Emre, Serap, Taşkıran, Zihni Ekim, Yüzbaşıoğlu, Ayşe, Önal, Gizem, Akarsu, Ayşe Nurten, Karaduman, Ayşen, Özgüç, Meral

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Application of medical genetics in Turkey von Tunçbilek, Ergül, Ozgüç, Meral

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Statin Potentiates Human Platelet eNOS Activity without Enhancing eNOS mRNA and Protein Levels von Yemisci, Muge, Ay, Hakan, Kocaefe, Çetin, Qui, Jianhua, Topalkara, Kamil, Özgüç, Meral, Kirazli, Şerafettin, Özcebe, Osman, Moskowitz, Michael A., Dalkara, Turgay

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Novel mutations of the MLC1 gene in Turkish patients von Yüzbaşioğlu, Ayşe, Topçu, Meral, Kocaefe, Y. Çetin, Özgüç, Meral

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Interleukin‐10 Gene Transfer: Prevention of Multiple Organ Injury in a Murine Cecal Ligation and Puncture Model of Sepsis von Kabay, Burhan, Kocaefe, Cetin, Baykal, Atac, Özden, Hilmi, Baycu, Cengiz, Oner, Zafer, Özgüç, Meral, Sayek, Iskender

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TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis von Kiper, Nural, Gerçeker, Filiz, Utine, Eda, Yalçın, Ebru, Pekcan, Sevgi, Çobanoğlu, Nazan, Aslan, Ayşe, Köse, Mehmet, Doğru, Deniz, Özçelik, Uğur, Özgüç, Meral

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Changes in the Expression of Selenoproteins in Mesial Temporal Lobe Epilepsy Patients von Yüzbaşioğlu, Ayşe, Karataş, Hülya, Gürsoy-Özdemir, Yasemin, Saygi, Serap, Akalan, Nejat, Söylemezoğlu, Figen, Dalkara, Turgay, Kocaefe, Y. Çetin, Özgüç, Meral

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Bioethical Challenges of the Ebola Outbreak von Ünsal, Çağrı Zeybek, Akçay, Duygu, Büken, Nüket Örnek, Özgüç, Meral

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Expression of matrix metalloproteinases in vasculitic neuropathy von GURER, Gunfer, ERDEM, Sevim, KOCAEFE, Cetin, ÖZGÜC, Meral, TAN, Ersin

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Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity von Fischer, Judith, Faure, Alexandra, Bouadjar, Bakar, Blanchet-Bardon, Claudine, Karaduman, Aysen, Thomas, Isabelle, Emre, Serap, Cure, Susan, Özgüc, Meral, Weissenbach, Jean, Prud'homme, Jean-François

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