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Alice Kamal Abd El Aleem

Cornell University

17

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123

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Clinical and Genomic characteristics of LAMA2 Related congenital Muscular Dystrophy in a Patients’ Cohort from Qatar. A population Specific Founder Variant

2020 Neuromuscular Disorders
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The minor and major spliceosome interact to regulate alternative splicing around minor introns

2020 bioRxiv
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Osteogenic Differentiation Potential of Human Bone Marrow and Amniotic Fluid-Derived Mesenchymal Stem Cells in Vitro & in Vivo

2019 Open Access Macedonian Journal of Medical Sciences
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Author response: Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex

2019 eLife
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Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome

2018 Clinical Genetics
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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

2017 BMC Medical Genetics
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Mutation in non-coding RNA, RNU12 causes early-onset cerebellar ataxia.

2017 Annals of Neurology
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Whole Genome Sequencing Identifies a Novel Occludin Mutation in Microcephaly with Band-like Calcification and Polymicrogyria that Extends the Phenotypic Spectrum (P1.343)

2014 Neurology
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Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

2014 BMC Research Notes
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Genomics And Molecular Genetic Diagnostic O utcomes Of WCMCQ-Neurogenetics Research Lab. A Contribution To Health Care In Qatar.

2014
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