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Rawan Almass

16

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185

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SLC25A42 ‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

2021
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Genetics of ataxia telangiectasia in a highly consanguineous population.

2021 Annals of Human Genetics
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Hematological findings associated with TBCD‐related encephalopathy: expanding the phenotype

2021 Clinical Genetics
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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

2020
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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

2020 Acta Neuropathologica
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VAMP1-Related Congenital Myasthenic Syndrome with Partial Electrophysiological Recovery After Pyridostigmine Therapy

2020 Neuromuscular Disorders
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Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

2019 European Journal of Neurology
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Identification of novel genomic imbalances in Saudi patients with congenital heart disease

2018 Molecular Cytogenetics
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Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

2018 European Journal of Paediatric Neurology
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A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

2018 The Cerebellum
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Citations (13)