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Publications in Genetics

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

English

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

American Journal of Human Genetics

English

Response to Whiffin Et Al.

American Journal of Human Genetics

English

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

American Journal of Human Genetics

English

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits

American Journal of Human Genetics

English

Template-Based Protein Structure Modeling Using the RaptorX Web Server

Nature Protocols

Molecular Biology

English

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American Journal of Human Genetics

English

The Collection of MicroED Data for Macromolecular Crystallography

Nature Protocols

Molecular Biology

English

This Month in the Journal

American Journal of Human Genetics

English

Preparation and Use of MitoPY1 for Imaging Hydrogen Peroxide in Mitochondria of Live Cells

Nature Protocols

Molecular Biology

English