ePoster Abstracts
Effect of microRNA-100 Expression on differentiated Acute myelocytic Leukemia
Authors:
Bahauddeen Alrfaei
*
King Abdullah International Medical Research Center (KAIMRC)
Sarah Albahkali
King Saud University
Ayman Mubarak
King Saud University
Health-related quality of life (HRQoL) in achondroplasia: Findings from a multinational, observational study
Authors:
Swati Mukherjee
*
Director Medical Affairs, Achondroplasia, BioMarin
Higher rates of non non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using the CPRD database
Authors:
Swati Mukherjee
*
Director Medical Affairs, Achondroplasia, BioMarin
Drug delivery of miR-539-5p for treatment of Glioblastoma using dendrimer nano-particles
Authors:
Fulwah Alqhtani
*
King Saud University, KSA
Rayan Nassani
King Abdullah International Medical Research Center, KSA
Fadilah Aleanizy
King Saud University, KSA
Bahauddeen M. Alrfaei
King Saud bin Abdulaziz University for Health Sciences/ King Abdullah International Medical Research Center, KSA
Novel phenotypic features of Loucks-Innes Syndrome, in one family from Saudi Arabia.
Authors:
Hanem Sayed Ahmed Abdelraouf
*
PSMMC, Saudi Arabia
Beta-Ketothiolase deficiency in a patient with coexistence of homozygous ACAT1 gene mutation and homologous constitutional translocation t(4;11)(q13;q23) and father with XYY syndrome
Authors:
M.Albalawi
*
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin AbdulazizUniversity for Health Sciences, Riyadh, Saudi Arabia,3College of Medicine, King Saud bin AbdulazizUniv. for Health Sciences, Riyadh, Saudi Arabia
E. AlOnazi
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia
B. AlAwad
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia
Y. AlThobaiti
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia
A. AlKhaldi
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia
W. Eyaid
King AbdulazizMedical City, MNGHA, Riyadh, Saudi Arabia
THE SPECTRUM OF CLINICAL AND MOLECULAR FINDINGS IN 212 SAUDI PATIENTS WITH 21-HYDROXYLASE DEFCIENCY
Authors:
Alya Qari
*
King Faisal Specialist Hospital & Research Center
Afaf  Al-Sagheir
King Faisal Specialist Hospital & Research Center
Moeen Al-Sayed
King Faisal Specialist Hospital & Research Center
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
Authors:
Anar Alfarsi
*
King Abdulaziz University Hospital
AI-based Identification of Diagnostic Variants from Genotype and Phenotype
Authors:
Azza Althagafi
*
Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia. Taif University, Faculty of Computing and Information Technology, Taif, Saudi Arabia
Robert Hoehndorf
Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.
The Psychological Burden of Preimplantation Genetic Testing (PGT-M) on Mothers with Multiple Monogenic Disorders and The Role of Genetic Counselling in Saudi Arabia.
Authors:
Monira Alshehri
*
College of Medicine - Alfaisal University
Alya Qari
Department of Medical Genetics - KFSH&RC.
College of Medicine - Alfaisal University.
Moeenaldeen AlSayed
Department of Medical Genetics - KFSH&RC.
College of Medicine - Alfaisal University.
Ameera Balobaid
Department of Medical Genetics - KFSH&RC.
College of Medicine - Alfaisal University.
Wafa AlQubbaj
Department of Pathology and Laboratory Medicine - KFSH&RC
College of Medicine - Alfaisal University.
Helsmoortel-Van der Aa syndrome in a 13-year-old girl demonstrates autistic spectrum disorder, dysmorphism, right solitary kidney, and polycystic ovaries
Authors:
Ebtesam AL-Enezi
*
Clinical Genetic and Metabolic Fellow, Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, KSA
Wafaa Eyaid
Consultant Genetic and Endocrinology, Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, KSA
Khaled AL-Enezi
Paediatric Cardiology Fellow, King Abdulaziz Cardiac Centre, Department of Cardiac Sciences, Division of Paediatric Cardiology, King Abdulaziz Medical City, Riyadh, KSA