Publications by authors named "Martin A Mensah"

9Publications

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Eur J Hum Genet 2019 12 18;27(12):1827-1835. Epub 2019 Jul 18.

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41431-019-0469-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871132PMC
December 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

J Inherit Metab Dis 2018 05 5;41(3):533-539. Epub 2018 Apr 5.

Institute of Human Genetics and Medical Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-018-0174-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959962PMC
May 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

Mutation c.943G>T (p.Ala315Ser) in Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Mol Syndromol 2017 Mar 13;8(2):93-97. Epub 2017 Jan 13.

Institute of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000455028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465678PMC
March 2017