Teebi, Ahmad S.

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,815

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 442

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)

Seidler, D. G., Faiyaz-Ul-Haque, M., Hansen, U., Yip, G. W., Zaidi, S. H. E., Teebi, A. S., Kiesel, L., & Götte, M. (2006) · Journal of Molecular Medicine

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 118

A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

Faiyaz‐Ul‐Haque, M., Zaidi, S. H. E., Al‐Ali, M., Al‐Mureikhi, M. S., Kennedy, S., Al‐Thani, G., Tsui, L., & Teebi, A. S. (2004) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 111

Rett syndrome: a mitochondrial disease?

Eeg-Olofsson, O., Al-Zuhair, A. G. H., Teebi, A. S., Daoud, A. S., Zaki, M., Besisso, M. S., & Al-Essa, M. M. N. (1990) · Journal of Child Neurology

Genetics and Neurodevelopmental DisordersMitochondrial Function and Pathology

Cited by 62

Abnormal mitochondria in the Rett syndrome

Eeg-Olofsson, O., Al-Zuhair, A. G., Teebi, A. S., & Al-Essa, M. M. (1988) · Brain and Development

Genetics and Neurodevelopmental DisordersMitochondrial Function and Pathology

Cited by 58

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., Maystadt, I., Cosyns, J., Jouk, P., et al. (2010) · Clinical Genetics

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

Cited by 36