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American Journal of Human Genetics|July 1, 1989
A new TATA box mutation detected at prenatal diagnosis for beta-thalassemiaS P Cai, J Z Zhang, M Doherty, et al.American Journal of Human Genetics|July 1, 1989
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patientsT Ohura, J P Kraus, L E RosenbergAmerican Journal of Human Genetics|July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaEmma M Wade, Philip B Daniel, Zandra A Jenkins, et al.American Journal of Human Genetics|July 14, 2015
Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and MacrophagesParaskevi Christofidou, Christopher P Nelson, Majid Nikpay, et al.American Journal of Human Genetics|July 14, 2015
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23Emma Strong, Darci T Butcher, Rajat Singhania, et al.American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.American Journal of Human Genetics|June 16, 2015
Loss-of-Function Mutations in APPL1 in Familial Diabetes MellitusSabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci, et al.American Journal of Human Genetics|June 16, 2015
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan SequenceHaiyi Lou, Yan Lu, Dongsheng Lu, et al.American Journal of Human Genetics|June 23, 2015
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationHarrison Brand, Ryan L Collins, Carrie Hanscom, et al.American Journal of Human Genetics|March 1, 1981
structured exploratory data analysis (SEDA) for determining mode of inheritance of quantitative traits. II. simulation studies on the effect of ascertaining families through high-valued probandsS Karlin, P T WilliamsPageof 979