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Genetic Testing and Molecular Biomarkers|September 1, 2009
Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplificationSueli Matilde da Silva-Costa, Fernanda Borchers Coeli, Carolina Rodrigues Lincoln-de-Carvalho, et al.
Genetic Testing and Molecular Biomarkers|September 1, 2009
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunitTheodoros Georgiou, Jacinta L Chuang, R Max Wynn, et al.
Genetic Testing and Molecular Biomarkers|September 1, 2009
Frequency of five important CYP2D6 alleles within an Iranian population (Eastern Azerbaijan)Hamed Kouhi, Hossein Hamzeiy, Jaleh Barar, et al.
Genetic Testing and Molecular Biomarkers|April 22, 2010
Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutationsMustak Ibn Ayub, Mahdi Muhammad Moosa, Golam Sarwardi, et al.
Genetic Testing and Molecular Biomarkers|April 22, 2009
Trisomy 12p and monosomy 4p: phenotype-genotype correlationDaniela Gambel Benussi, Paola Costa, Marcella Zollino, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseasesWeimin Zhang, Xiaofeng Li, Adong Shen, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genesMałgorzata Rydzanicz, Maciej Wróbel, Karolina Cywińska, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitisMaria Teresa Vietri, Gabriele Riegler, Marialaura De Paola, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor geneKristian Tveten, Kah-Lin Khoo, Knut Erik Berge, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndromeSpyridon Megremis, Andromachi Mitsioni, Artemis G Mitsioni, et al.
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