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- 2024
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Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
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- Contribution to journal › Scientific review
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Mark
Coagulation abnormalities and vascular complications are common in PGM1-CDG
(
- Contribution to journal › Article
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
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- Contribution to journal › Article
- 2023
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Mark
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
(
- Contribution to journal › Article
- 2022
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Mark
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
(
- Contribution to journal › Article
- 2017
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Mark
Roscoe Owen Brady, MD : Remembrances of co-investigators and colleagues
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- Contribution to journal › Article
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Mark
Hospitalizations for mitochondrial disease across the lifespan in the U.S
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- Contribution to journal › Article
- 2011
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Mark
A common variant near the PRL gene is associated with increased adiposity in males
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- Contribution to journal › Article
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Mark
Androgen receptor htSNPs in relation to androgen levels and OC use in young women from high-risk breast cancer families.
(
- Contribution to journal › Article
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Mark
The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
(
- Contribution to journal › Article
- 2010
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Mark
l-Serine synthesis in the central nervous system : A review on serine deficiency disorders
(
- Contribution to journal › Scientific review
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Mark
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations : Implications for the diagnosis and follow-up of serine biosynthesis disorders
(
- Contribution to journal › Article
- 2009
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Mark
Recommendations on the diagnosis and management of Niemann-Pick disease type C
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- Contribution to journal › Debate/Note/Editorial
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Mark
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
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- Contribution to journal › Article
- 2008
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Mark
A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population
(
- Contribution to journal › Article
- 2006
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Mark
Moderate coffee and alcohol consumption improves the estrogen metabolite profile in adjuvant treated breast cancer patients: A pilot study comparing pre- and post-operative levels
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- Contribution to journal › Article
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Mark
Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses
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- Contribution to journal › Article
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Mark
Comparison of plasma and urinary levels of 2-hydroxyestrogen and 16 alpha-hydroxyestrogen metabolites
(
- Contribution to journal › Article
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Mark
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism
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- Contribution to journal › Article
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Mark
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
(
- Contribution to journal › Article