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- 2016
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Mark
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
(
- Contribution to journal › Article
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Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
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Mark
Meta-analysis of Cancer Gene Profiling Data.
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- Contribution to journal › Article
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Mark
Do Genetic Factors Modify the Relationship Between Obesity and Hypertriglyceridemia? : Findings From the GLACIER and the MDC Studies
(
- Contribution to journal › Article
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Mark
Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.
(
- Contribution to journal › Scientific review
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Mark
FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.
(
- Contribution to journal › Article
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Mark
Evidence of Inbreeding in Hodgkin Lymphoma
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- Contribution to journal › Article
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Mark
Analysis with the exome array identifies multiple new independent variants in lipid loci
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- Contribution to journal › Article
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Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
(
- Contribution to journal › Article
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Mark
Heterozygous PINK1 p.G411S mutation increases risk for Parkinson's disease (PD)
2016) 20th International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 31(Suppl. S2). p.282-282(
- Contribution to journal › Published meeting abstract