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- 2018
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
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- Contribution to journal › Article
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Mark
TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study
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- Contribution to journal › Article
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
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- Contribution to journal › Article
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Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
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- Contribution to journal › Article
- 2016
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Mark
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions.
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- Contribution to journal › Article
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Mark
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate
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- Contribution to journal › Article
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Mark
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
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- Contribution to journal › Article
- 2015
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Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
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- Contribution to journal › Article
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Mark
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
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- Contribution to journal › Article
- 2014
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Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
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- Contribution to journal › Article