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Publications by Hakon Hakonarson
Imputation of TPMT Defective Alleles for the Identification of Patients With High-Risk Phenotypes
Frontiers in Genetics
Genetics
Molecular Medicine
Assessing the Functional Consequence of Loss of Function Variants Using Electronic Medical Record and Large-Scale Genomics Consortium Efforts
Frontiers in Genetics
Genetics
Molecular Medicine
Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis
Frontiers in Genetics
Genetics
Molecular Medicine
Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Delayed Diagnosis of Congenital Myasthenia Due to Associated Mitochondrial Enzyme Defect
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
Homozygosity for the V37IGJB2mutation in Fifteen Probands With Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in Asian Populations
American Journal of Medical Genetics, Part A
Genetics
Genomic Alterations in Biliary Atresia Suggest Region of Potential Disease Susceptibility in 2q37.3
American Journal of Medical Genetics, Part A
Genetics
Two Variants of the C-Reactive Protein Gene Are Associated With Risk of Pre-Eclampsia in an American Indian Population
PLoS ONE
Multidisciplinary
Gene-Based Genome-Wide Association Studies and Meta-Analyses of Conotruncal Heart Defects
PLoS ONE
Multidisciplinary
Phenome-Wide Association Analysis of LDL-cholesterol Lowering Genetic Variants in PCSK9
BMC Cardiovascular Disorders
Cardiovascular Medicine
Cardiology
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