Fingerprint Dive into the research topics where Abdel Aleem Lab is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Genome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Congenital Pain Insensitivity Medicine & Life Sciences
Hereditary Sensory and Autonomic Neuropathies Medicine & Life Sciences
Spinocerebellar Degenerations Medicine & Life Sciences
Occludin Medicine & Life Sciences
Consanguinity Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2014 2018

  • 42 Citations
  • 4 h-Index
  • 5 Article
  • 1 Letter

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome

Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kamel, H., AL Mureikhi, M., Ibrahim, K., Elizabeth Ross, M. & Kamal Abd El Aleem, A., 1 Feb 2018, In : Clinical Genetics. 93, 2, p. 387-391 5 p.

Research output: Contribution to journalArticle

Nonsense Codon
Protein Isoforms
Cobblestone Lissencephaly
Brain
DEET
16 Citations (Scopus)

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kumar, P., Kamel, H., Ibrahim, K., Ali Mohamoud, Y., Aldous, E., Al Azwani, I., Malek, J., Suhre, K., Ross, M. E. & Kamal Abd El Aleem, A., 1 Jan 2017, In : Annals of Neurology. 81, 1, p. 68-78 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Untranslated RNA
Genome
Spliceosomes
Mutation
7 Citations (Scopus)

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

Elsaid, M. F., Ibrahim, K., Chalhoub, N., Elsotouhy, A., El Mudehki, N. & Kamal Abd El Aleem, A., 21 Mar 2017, In : BMC Medical Genetics. 18, 1, 33.

Research output: Contribution to journalArticle

Corpus Callosum
Paraplegia
Hereditary Spastic Paraplegia
Purines
Neurodegenerative Diseases