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- 2018
-
Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2017
-
Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
- 2016
-
Mark
Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study
(
- Contribution to journal › Article
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
-
Mark
A reference panel of 64,976 haplotypes for genotype imputation
(
- Contribution to journal › Article
-
Mark
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
(
- Contribution to journal › Article
- 2015
-
Mark
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
(
- Contribution to journal › Article
- 2014
-
Mark
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
(
- Contribution to journal › Article
-
Mark
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
(
- Contribution to journal › Article
-
Mark
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
(
- Contribution to journal › Article