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Authors: Alexander P A Stegmann
Journal Article
De novo variants in MPP5 cause global developmental delay and behavioral changes Free
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3388–3401, https://doi.org/10.1093/hmg/ddaa224
Published: 19 October 2020
Journal Article
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype Open Access
Human Molecular Genetics, Volume 27, Issue 16, 15 August 2018, Pages 2775–2788, https://doi.org/10.1093/hmg/ddy168
Published: 08 May 2018
Journal Article
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects Free
Human Molecular Genetics, Volume 26, Issue 24, 15 December 2017, Pages 4849–4860, https://doi.org/10.1093/hmg/ddx363
Published: 22 September 2017
