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1. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

   Authors:Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram and Arash Rafii

   Content type:Case report

    

   17 September 2020

2. Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer’s disease

   Authors:Xi-chen Zhu, Wen-zhuo Dai and Tao Ma

   Content type:Research article

    

   12 September 2020

3. A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex

   Authors:Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang and Jing Li

   Content type:Case report

    

   11 September 2020

4. Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1

   Authors:Urban Alehagen, Levar Shamoun and Dick Wågsäter

   Content type:Research article

    

   11 September 2020

5. Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study

   Authors:Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Raimund Erbel and Susanne Moebus

   Content type:Research article

    

   10 September 2020