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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, and Bülent Hacıhamdioğlu

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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification 

Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker et al.

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Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Taha Reşid Özdemir, Murat Alan, Muzaffer Sancı, and Altuğ Koç

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A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation

Hale Önder Yılmaz, Duran Topak, Orkun Yılmaz, and Seda Çakmaklı

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Association of E-selectin S128R polymorphism with hereditary breast carcinoma susceptibility in Turkish patients without BRCA1/2 germline mutations

K Yararbas and PB Atalay

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Comparison of two groups for the apolipoprotein E polymorphisms by using next generation sequencing: The first group with three consecutive abortions and the second group with at most one abortion in three consecutive pregnancies

Evren Gumus

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The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T)

Evren Gumus

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Comorbidity of the congenital absence of the vas deferens

E. C. Akinsal, N. Baydilli, M. E. Dogan and O. Ekmekcioglu

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