Adila AlKindi

Dr.

  • 38 Citations
  • 3 h-Index
20052018
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  • 9 Similar Profiles
Genetic Databases Medicine & Life Sciences
Exome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Oman Medicine & Life Sciences
Microphthalmos Medicine & Life Sciences
Genes Medicine & Life Sciences
Iris Medicine & Life Sciences

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Research Output 2005 2018

  • 38 Citations
  • 3 h-Index
  • 5 Article
1 Citation (Scopus)

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Bonnard, C., Shboul, M., Tonekaboni, S. H., Ng, A. Y. J., Tohari, S., Ghosh, K., Lai, A., Lim, J. Y., Tan, E. C., Devisme, L., Stichelbout, M., Alkindi, A., Banu, N., Yüksel, Z., Ghoumid, J., Elkhartoufi, N., Boutaud, L., Micalizzi, A., Brett, M. S., Venkatesh, B. & 4 others, Valente, E. M., Attié-Bitach, T., Reversade, B. & Kariminejad, A., Jan 1 2018, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Mutation
Genes
Polydactyly
Genetic Association Studies
Tongue
7 Citations (Scopus)
Exome
Intellectual Disability
Computational Biology
Genetic Databases
Phenotype
12 Citations (Scopus)

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Al-Kindi, A., Kizhakkedath, P., Xu, H., John, A., Sayegh, A. A., Ganesh, A., Al-Awadi, M., Al-Anbouri, L., Al-Gazali, L., Leitinger, B. & Ali, B. R., Apr 11 2014, In : BMC Medical Genetics. 15, 1, 42.

Research output: Contribution to journalArticle

Extremities
Mutation
Mutant Proteins
Endoplasmic Reticulum
Genes
Oman
Genetic Databases
Hypoparathyroidism
Intracellular Membranes
Tubulin
17 Citations (Scopus)

The phenotypic spectrum of Baraitser-Winter syndrome: A new case and review of literature

Ganesh, A., Al-Kindi, A., Jain, R. & Raeburn, S., Dec 2005, In : Journal of AAPOS. 9, 6, p. 604-606 3 p.

Research output: Contribution to journalArticle

Microphthalmos
Genetic Databases
Iris
Siblings
Lissencephaly