Ghalia Al‐Kasbi

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

Ghalia Al‐Kasbi, Fathiya Al-Murshedi, Adila Al‐Kindi et al. · Scientific Reports · 2022 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic spectrum of <i>ALPK3</i>‐related cardiomyopathy

Khalfan Al Senaidi, Niranjan Joshi, Maryam Al‐Nabhani et al. · American Journal of Medical Genetics Part A · 2019 · 29 citations

Medicine, Cardiology, Genetics +14

Missense mutations in <i>SLC25A1</i> are associated with congenital myasthenic syndrome type 23

Amna Al‐Futaisi, Faraz S. Ahmad, Ghalia Al‐Kasbi et al. · Clinical Genetics · 2019 · 13 citations

Life Sciences, Genetics, Molecular Genetics +10

Biallelic <scp><i>PTRHD1</i></scp> Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism

Ghalia Al‐Kasbi, Abeer Al‐Saegh, Ahmed Al‐Qassabi et al. · Movement Disorders Clinical Practice · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Khalid Al‐Thihli, Cassian Afting, Nadia Alhashmi et al. · Clinical Genetics · 2020 · 11 citations

Life Sciences, Genetics, Molecular Genetics +17