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Genome Announcements|May 7, 2016
Complete Genome Sequences of Three African Foot-and-Mouth Disease Viruses from Clinical Samples Isolated in 2009 and 2010Steven Van Borm, Toon Rosseel, Andy Haegeman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2016
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentDorien Baetens, Hans Stoop, Frank Peelman, et al.
Scientific Reports|January 9, 2021
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variantIne Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2024
Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish modelTamara Jarayseh, Sophie Debaenst, Hanna De Saffel, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 18, 2023
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone DevelopmentBrecht Guillemyn, Hanna De Saffel, Jan Willem Bek, et al.
Molecular Vision|September 16, 2021
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)Kent W Small, Stijn Van de Sompele, Karen Nuytemans, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
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