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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
[An attempt to locate the gene for congenital cataracts using linkage analysis].
Genomic identification in the historical case of the Nicholas II royal family.
Human Genome Project
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Toward high-resolution population genomics using archaeological samples.
Annotation of suprachromosomal families reveals uncommon types of alpha satellite organization in pericentromeric regions of hg38 human genome assembly.
Quantitative Analysis of L1-Retrotransposons in Alzheimer's Disease and Aging.
Classification and monomer-by-monomer annotation dataset of suprachromosomal family 1 alpha satellite higher-order repeats in hg38 human genome assembly.
[Direct detection of loci with pathologic trinucleotide repeats in diseases with anticipation].
The complete sequence of a human genome.
Complete genomic and epigenetic maps of human centromeres.