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American Journal of Human Genetics|December 1, 1988
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagenM Godfrey, D W Hollister
American Journal of Human Genetics|December 1, 1988
Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangementsM S Hertzberg, K N Mickleson, R J Trent
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem DiseaseSaskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
American Journal of Human Genetics|January 22, 2019
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking PathwaysGuillaume Dorval, Valeryia Kuzmuk, Olivier Gribouval, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
American Journal of Human Genetics|February 9, 2019
Optimal Integration of Behavioral Medicine into Clinical Genetics and GenomicsWilliam M P Klein, Colleen M McBride, Caitlin G Allen, et al.
American Journal of Human Genetics|February 9, 2019
Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged LearnersElizabeth A Wright, Jennifer K Wagner, Mark D Shriver, et al.
American Journal of Human Genetics|January 29, 2019
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and MiceCharles Coutton, Guillaume Martinez, Zine-Eddine Kherraf, et al.
American Journal of Human Genetics|January 1, 2019
Leveraging Polygenic Functional Enrichment to Improve GWAS PowerGleb Kichaev, Gaurav Bhatia, Po-Ru Loh, et al.
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