Search Results - "Elsayed, Liena Elbaghir Omer"
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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Published in Human genomics (04-09-2024)“…Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation…”
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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Published in Human genomics (15-10-2024)Get full text
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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease
Published in Annals of neurology (01-02-2016)Get full text
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A N ovel N onsense M utation in DNAJC 6 E xpands the P henotype of A utosomal‐ R ecessive J uvenile‐ O nset P arkinson's D isease
Published in Annals of neurology (01-02-2016)Get full text
Journal Article