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1. Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype

   Authors:Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara

   Content type:Case report

    

   12 June 2020

2. A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

   Authors:Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi and Mohammad Amin Tabatabaiefar

   Content type:Research article

    

   9 June 2020

3. A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

   Authors:Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng

   Content type:Case report

    

   8 June 2020

4. Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania

   Authors:Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa and Julie Makani

   Content type:Research article

    

   5 June 2020

5. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

   Authors:Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear

   Content type:Case report

    

   5 June 2020