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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
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
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- 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
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.
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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
- 2010
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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