Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

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

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Research Output 2014 2018

  • 30 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
8 Citations

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
Introns
Genome
Spliceosomes
5 Citations

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