If you made any changes in Pure these will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 16 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Genome Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Exons Medicine & Life Sciences
Corpus Callosum Medicine & Life Sciences

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

Research Output 1995 2018

  • 730 Citations
  • 12 h-Index
  • 21 Article
  • 1 Letter
  • 1 Review article

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
10 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
6 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
4 Citations (Scopus)

Non-truncating LIFR mutation: Causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid, M. F., Chalhoub, N., Kamel, H., Ehlayel, M., Ibrahim, N., Elsaid, A., Kumar, P., Khalak, H., Ilyin, V. A., Suhre, K. & Kamal Abd El Aleem, A., 1 Feb 2016, In : Clinical Genetics. 89, 2, p. 210-216 7 p.

Research output: Contribution to journalArticle

Congenital Pain Insensitivity
Hereditary Sensory and Autonomic Neuropathies
Phenotype
Mutation
Hypohidrosis
5 Citations (Scopus)

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients

Mahmoud, I. G., Mahmoud, M., Refaat, M., Girgis, M., Waked, N., El Badawy, A., Selim, L., Hassan, S. & Kamal Abd El Aleem, A., Feb 2014, In : Pediatric Neurology. 50, 2, p. 140-148 9 p.

Research output: Contribution to journalArticle

Neuroimaging
Megalencephaly
Exons
INDEL Mutation
Leukoencephalopathies