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Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article
Brain and Development, ISSN 0387-7604, 06/2018, Volume 40, Issue 6, pp. 480 - 483
Recently recessive mutations in ( ) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a... 
Sphingosine-1-phosphate lyase | Congenital brain malformation | Cerebellar hypoplasia | Next generation sequencing | ADRENAL INSUFFICIENCY | Sphinaosine-1-phosphate lyase | NEPHROTIC SYNDROME | LYASE | DEFICIENCY | CLINICAL NEUROLOGY | Phosphates | Genetic disorders | Neurons | Pediatric radiology | Sphingosine | Genetic aspects | Kidney diseases
Journal Article
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 07/2017, Volume 32, Issue 7, pp. 1269 - 1273
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1153 - 1162
Journal Article