Laila Abd Elmotelab
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PRRT2 mutations: exploring the phenotypical boundaries.
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Djémié T1, W. S, H. P, S. L, and D. J. P, "PRRT2 mutations: exploring the phenotypical boundaries.", J Neurol Neurosurg Psychiatry, vol. 85, issue 4, pp. 462-5, 2014.
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exome sequencing
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neurogenetics
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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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