• 43 Citations
  • 4 h-Index
20142018
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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.

  • 17 Similar Profiles
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

  • 43 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
17 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
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
9 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

Single Nucleotide Polymorphism
Pipelines
Genes
Genome
Human Genome