• 48 Citations
  • 4 h-Index
20142018

Research output per year

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Research Output

  • 48 Citations
  • 4 h-Index
  • 5 Article
  • 1 Letter
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Article
2018

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

2017

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

18 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

8 Citations (Scopus)
2016

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

4 Citations (Scopus)
2014

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

Kumar, P., Al-Shafai, M., Al Muftah, W. A., Chalhoub, N., Elsaid, M. F., Kamal Abd El Aleem, A. & Suhre, K., 2014, In : BMC Research Notes. 7, 1, 747.

Research output: Contribution to journalArticle

9 Citations (Scopus)