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List of works by Martin A Mensah

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

scientific article published on 5 April 2018

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

scientific article

Combining callers improves the detection of copy number variants from whole-genome sequencing

scientific article published on 08 November 2021

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

scientific article published on 17 January 2018

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

scientific article published on 18 July 2019

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

scientific article published on 22 October 2020

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

article

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

scientific article published on 13 January 2017

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

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