Research Papers

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Challenges of diagnostic exome sequencing in an inbred founder population.
Azmanov DN; Chamova T; Tankard R; Gelev V; Bynevelt M; Florez L; Tzoneva D; Zlatareva D; Guergueltcheva V; Bahlo M; Tournev I; Kalaydjieva L.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
The confounding effect of cryptic relatedness for environmental risks of systolic blood pressure on cohort studies.
Shibata K; Hozawa A; Tamiya G; Ueki M; Nakamura T; Narimatsu H; Kubota I; Ueno Y; Kato T; Yamashita H; Fukao A; Kayama T; Yamagata University Genomic Cohort Consortiuma.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomuta…
Andreotti G; Pedone E; Giordano A; Cubellis MV.
Mol Genet Genomic Med (Unknown)
Published: 2013
3/6 Transparent
Data Funding Declared
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Gerth-Kahlert C; Williamson K; Ansari M; Rainger JK; Hingst V; Zimmermann T; Tech S; Guthoff RF; van Heyningen V; Fitzpatrick DR.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
Molecular genetics to genomic medicine practice: at the heart of value-based delivery of healthcare.
Eng C.
Mol Genet Genomic Med (Unknown)
Published: 2013
Twin Mitochondrial Sequence Analysis.
Bouhlal Y; Martinez S; Gong H; Dumas K; Shieh JT.
Mol Genet Genomic Med (Unknown)
Published: 2013
3/6 Transparent
Data Funding Declared
A Novel <i>ERAP2</i> Haplotype Structure in a Chilean Population: Implications for ERAP2 Protein Expression and Preecla…
Vanhille DL; Hill LD; Hilliard DD; Lee ED; Teves ME; Srinivas S; Kusanovic JP; Gomez R; Stratikos E; Elovitz MA; Romero R; Strauss JF.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.
Gutierrez JA; Hannoush ZC; Vargas LG; Momany A; Garcia CC; Murray JC; Dunnwald M.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian…
Saha B; Lessel D; Nampoothiri S; Rao AS; Hisama FM; Peter D; Bennett C; Nürnberg G; Nürnberg P; Martin GM; Kubisch C; Oshima J.
Mol Genet Genomic Med (Unknown)
Published: 2013
2/6 Transparent
Funding Declared