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- 2015
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Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
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Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2014
-
Mark
Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.
(
- Contribution to journal › Article
- 2013
-
Mark
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
(
- Contribution to journal › Article
- 2012
-
Mark
Neurology of inherited glycosylation disorders
(
- Contribution to journal › Scientific review
- 2011
-
Mark
A novel treatment approach for paediatric Gorham-Stout syndrome with chylothorax
(
- Contribution to journal › Article
- 2010
-
Mark
Neonatal invasiv grupp B-streptokockinfektion. Förhastat av Socialstyrelsen att avfärda allmän screening.
(
- Contribution to journal › Article
- 2009
-
Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article
- 2007
-
Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
-
Mark
The importance of fibroblasts in remodelling of the human uterine cervix during pregnancy and parturition.
(
- Contribution to journal › Article