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PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, pp. e1002114 - e1002114
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 417 - 421
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 7 - 14
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167AA, Issue 12, pp. 2902 - 2912
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 392 - 406
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2005, Volume 37, Issue 10, pp. 1119 - 1124
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1739 - 1746
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized... 
Journal Article
Journal of medical genetics, ISSN 0022-2593, 2011, Volume 48, Issue 6, pp. 417 - 421
Journal Article
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 2008, Volume 28, Issue 4, pp. 309 - 312
Journal Article