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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 23, 2024
A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesisGuoju Hong, William Xie, Kashif Ahmed, et al.
American Journal of Medical Genetics|October 31, 2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred, Salim Aftimos, Christine Hall, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuriaRanda Sultan, Jordan Urlacher, Taryn Athey, et al.
American Journal of Medical Genetics. Part A|December 2, 2017
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiencyGraeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, et al.
Archives of Osteoporosis|June 6, 2021
Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture historyJennifer Harrington, Abdulmajeed AlSubaihin, Lucie Dupuis, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|November 14, 2019
Unique retinal signaling defect in GNB5-related diseaseZhuo Shao, Anupreet Tumber, Jason Maynes, et al.
Pediatric Radiology|May 8, 2013
Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutationCristina M Philpott, Elysa Widjaja, Charles Raybaud, et al.
Case Reports in Genetics|October 18, 2012
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomalyRachel O'Connor, Amel Al-Murrani, Salim Aftimos, et al.
Gene|July 16, 2011
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genesRenate Marquis-Nicholson, Salim Aftimos, Fern Ashton, et al.
Molecular Genetics and Metabolism Reports|December 5, 2019
Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratodermaFady Hannah-Shmouni, Lauren MacNeil, Irene Lara-Corrales, et al.
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