Laila Abd Elmotelab

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exome sequencing

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Dixon-Salazar TJ, Udpa N, S. B. S. A. E. O. J. S. J., S. JL, Z. MS, A. - S. GH, M. LA, S. L, A. - H. S, and G. J, "Exome sequencing can improve diagnosis and alter patient management.", Sci Transl Med, vol. 4 (138), issue 3003544., pp. 138-178, 2012.
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Recent Publications

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
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