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Journal of Medical Genetics|December 9, 2024
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic ConsortiumMichelle Su-Anne Lim, Dong-Chuan Guo, Walter Velasco Torrez, et al.
American Journal of Human Genetics|December 13, 2016
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular DiseaseDong-Chuan Guo, Xue-Yan Duan, Ellen S Regalado, et al.
Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Psychology Research and Behavior Management|December 5, 2023
Neurogenetics and Epigenetics of LonelinessAbdalla Bowirrat, Igor Elman, Catherine A Dennen, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
The Journal of Clinical Endocrinology and Metabolism|February 25, 2011
Modified-release recombinant human TSH (MRrhTSH) augments the effect of (131)I therapy in benign multinodular goiter: results from a multicenter international, randomized, placebo-controlled studyH Graf, S Fast, F Pacini, et al.
The Journal of Trauma and Acute Care Surgery|January 10, 2022
Developing a National Trauma Research Action Plan: Results from the Neurotrauma Research Panel Delphi SurveyDeborah M Stein, Maxwell A Braverman, Jimmy Phuong, et al.
Nature Biomedical Engineering|April 14, 2026
In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorderXin D Gao, Maximiliano Presa, Jordyn E Duby, et al.
International Journal of Environmental Research and Public Health|March 13, 2012
Generational association studies of dopaminergic genes in reward deficiency syndrome (RDS) subjects: selecting appropriate phenotypes for reward dependence behaviorsKenneth Blum, Amanda L C Chen, Marlene Oscar-Berman, et al.
Circulation. Cardiovascular Genetics|November 24, 2016
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)Guillaume Jondeau, Jacques Ropers, Ellen Regalado, et al.
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