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Saud Alsahli

King Saud bin Abdulaziz University for Health Sciences

5

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Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

2019 Neurogenetics
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Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4:

2018
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Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

2018
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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

2017 Molecular Genetics and Metabolism
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Further Delineation of Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome type 4 (CAMRQ4); Report of 5 New Patients and Review of Previously Reported Cases. (P4.078)

2017 Neurology
- Saud Alsahli
- Majid Alfadhel
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