• 79 Citations
  • 5 h-Index
20132016
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Fingerprint Dive into the research topics where Zandre Bruwer is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Hereditary Nonpolyposis Colorectal Neoplasms Medicine & Life Sciences
Oman Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Genetic Counseling Medicine & Life Sciences
Mutation Medicine & Life Sciences
Prenatal Diagnosis Medicine & Life Sciences
South Africa Medicine & Life Sciences
Neoplasms Medicine & Life Sciences

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Research Output 2013 2016

  • 79 Citations
  • 5 h-Index
  • 10 Article
  • 1 Chapter
32 Citations (Scopus)

EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W., Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D. T., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N. J., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., Mar 1 2016, In : Brain. 139, 3, p. 765-781 17 p.

Research output: Contribution to journalArticle

Autophagy
Mutation
Agenesis of Corpus Callosum
Microcephaly
Glycogen
3 Citations (Scopus)

Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease

Scott, P., Bruwer, Z., Al-Kharusi, K., Meftah, D. & Al-Murshedi, F., May 1 2016, In : Oman Medical Journal. 31, 3, p. 227-230 4 p.

Research output: Contribution to journalArticle

Optic Neuritis
Neurilemmoma
Hand Deformities
Vocal Cord Paralysis
Hoof and Claw
5 Citations (Scopus)

Predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study

de Decker, R., Bruwer, Z., Hendricks, L., Schoeman, M., Schutte, G. & Lawrenson, J., Jun 1 2016, In : South African Medical Journal. 106, 6, p. S82-S86

Research output: Contribution to journalArticle

DiGeorge Syndrome
Red Cross
South Africa
Fluorescence In Situ Hybridization
Heart Diseases
4 Citations (Scopus)
Microarray Analysis
Oman
Population
Medicine
Autism Spectrum Disorder
Oman
Genetic Counseling
Prenatal Diagnosis