ePoster Abstracts

Effect of microRNA-100 Expression on differentiated Acute myelocytic Leukemia

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

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

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

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.

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

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

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

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

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.

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

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