AMERICAN JOURNAL OF HUMAN GENETICS

AMERICAN JOURNAL OF HUMAN GENETICS Journal

publication venue for

Identifying parental and cell-division origins of aneuploidy in the human blastocyst. 110:565-574. 2023
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. 108:346-356. 2021
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 103:968-975. 2018
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.. 100:51-63. 2017
Mutation in cytochrome c oxidase subunit III in Alzheimer's Disease 2000
Numerous Point Mutations in the Mitochondrially-encoded Cytochrome Oxidase Subunit III Gene Detected by Single Strand Conformational Polymorphism Analysis of Brain Samples From Patients with Alzheimer's Disease 1999

International Standard Serial Number (ISSN)

0002-9297

Electronic International Standard Serial Number (EISSN)

1537-6605