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JOURNAL OF INHERITED METABOLIC DISEASE, ISSN 0141-8955, 09/2012, Volume 35, pp. S23 - S23
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2003, Volume 73, Issue 5, pp. 580 - 580
Journal Article
JOURNAL OF INHERITED METABOLIC DISEASE, ISSN 0141-8955, 12/2005, Volume 28, Issue 6, pp. 1172 - 1174
We present a relatively mild case of peroxisomal D-bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders. 
Journal Article
Human Mutation, ISSN 1059-7794, 1998, Volume 11, Issue S1, pp. S85 - S87
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1995, Volume 32, Issue 10, p. 764
The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We... 
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3087 - 15
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Journal of Medical Genetics, ISSN 0022-2593, 2010, Volume 47, Issue 5, pp. 299 - 311
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Journal of medical genetics, ISSN 0022-2593, 2010, Volume 47, Issue 3, pp. 169 - 175
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European journal of human genetics, ISSN 1018-4813, 2010, Volume 18, Issue 9, pp. 999 - 1005
Journal Article