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American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkNicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Respiratory and Critical Care Medicine|August 28, 2012
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertensionEmma K Larkin, John H Newman, Eric D Austin, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
Cancer Biology & Therapy|January 27, 2012
A single nucleotide polymorphism of the cholecystokinin-B receptor predicts risk for pancreatic cancerJill P Smith, John F Harms, Gail L Matters, et al.
Hypertension (Dallas, Tex. : 1979)|October 6, 2005
Endothelial NO synthase polymorphisms and postural tachycardia syndromeEmily M Garland, Robert Winker, Scott M Williams, et al.
Biology of Sex Differences|February 22, 2012
BMPR2 expression is suppressed by signaling through the estrogen receptorEric D Austin, Rizwan Hamid, Anna R Hemnes, et al.
BMC Medical Genomics|January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysisMichael M Segal, Meriel McEntagart, Alexander T Deng, et al.
Scientific Reports|December 21, 2021
Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in AchondroplasiaTimothy C R Prickett, Eric A Espiner, Melita Irving, et al.
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