[HTML][HTML] The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

…, W Al-Mamari, A Al-Asmi, Z Bruwer, K Al-Kharusi… - Scientific Reports, 2022 - nature.com
Global Developmental Delay/Intellectual disability (ID) is the term used to describe various
disorders caused by abnormal brain development and characterized by impairments in …

Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia

…, C Li, S Muralitharan, K Al-Kharusi… - Pediatric hematology …, 2005 - Taylor & Francis
Gene expression profiling may improve the understanding of the biology behind relapse in
pediatric acute lymphoblastic leukemia. Using suppression subtractive hybridization (SSH), …

Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset

…, K Al‐Said, G Al‐Kasbi, K AlKharusi… - Clinical …, 2021 - Wiley Online Library
Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six
individuals of a large consanguineous family presented in the neonatal period with recurrent …

Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis

…, G Al-Kasbi, A Al-Kindi, Z Bruwer, K Al-Kharusi… - European Journal of …, 2022 - Elsevier
Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date,
pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause …

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience

…, A Al Kindy, D Meftah, K Al Kharusi… - Journal of perinatal …, 2018 - degruyter.com
Objective: The purpose of this study was to determine the frequency of non-immune hydrops
fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University …

[HTML][HTML] Occurrence of optic neuritis and cervical cord schwannoma with Charcot-Marie-Tooth type 4B1 disease

P Scott, Z Bruwer, K Al-Kharusi, D Meftah… - Oman Medical …, 2016 - ncbi.nlm.nih.gov
Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4
with reported association of facial weakness, vocal cord paresis, chest deformities, and claw …

The experience of preimplantation genetic testing (PGT) among Muslim couples in Oman in the Middle East

K AlKharusi, Z Bruwer… - Journal of Genetic …, 2021 - Wiley Online Library
Khalsa Al-Kharusi made substantial contributions to the conception and design of the work;
the … Al-Kharusi, Bruwer, and Wessels agreed to be accountable for all aspects of the work in …

[HTML][HTML] Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period

Z Bruwer, S Al Ubaidani, K Al Kharusi… - Journal of Community …, 2022 - Springer
Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene
disorders within Islamic societies in the Middle East are limited. A few have examined the …

The Experiences of Couples Undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University …

K Al-Kharusi - 2016 - open.uct.ac.za
… I, Khalsa Al-Kharusi, hereby declare that the work on which this dissertation/thesis is based
is my original work (except where acknowledgements indicate otherwise) and that neither …

[PDF][PDF] Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience

A Al Sayegh, A Al Kindy, D Meftah, K Al Kharusi… - academia.edu
Objective: The purpose of this study was to determine the frequency of non-immune hydrops
fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University …