Salim Aftimos
Auckland, AUK 1142, New Zealand
Last Updated: 09/26/2026
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Found 9 publications
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
Journal: The Journal of biological chemistry
Published: February 22, 2018
The genetic basis of DOORS syndrome: an exome-sequencing study.
Journal: The Lancet. Neurology
Published: December 03, 2013
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
Journal: Pediatric dermatology
Published: November 08, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.
Journal: Case reports in pediatrics
Published: July 01, 2012
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.
Journal: Sultan Qaboos University medical journal
Published: May 18, 2012
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.
Journal: Sultan Qaboos University medical journal
Published: May 17, 2012
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.
Journal: Sultan Qaboos University medical journal
Published: May 15, 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Journal: Case reports in genetics
Published: February 21, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026