• 45 Citations
  • 4 h-Index
20142018

Research output per year

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Fingerprint Dive into the research topics where Nader Chalhoub is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 45 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

  • 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

  • 17 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

  • 7 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

  • 4 Citations (Scopus)

    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)