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DNA Sequences Mediating Class Switching in α-Immunoglobulins

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Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

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Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

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Numbers and Ratios of Visual Pigment Genes for Normal Red-Green Color Vision

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Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

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Peroxisomal disorders

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Chromosomal Heteromorphisms and Cancer Susceptibility Revisited

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The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication

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A Contiguous 3-Mb Sequence-Ready Map in the S3–MX Region on 21q22.2 Based on High- Throughput Nonisotopic Library ScreeningsPreprint

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The Pathological Consequences and Evolutionary Implications of Recent Human Genomic Duplications

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An eutherian intronic sequence gave rise to a major satellite DNA in Platyrrhini

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Evolutionary analysis of the highly dynamic CHEK2duplicon in anthropoids

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Molecular diagnosis of X-linked adrenoleukodystrophy: Experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations

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Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

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The Myosin Light Chain Kinase Gene Is Not Duplicated in Mouse: Partial Structure and Chromosomal Localization of Mylk

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New Nomenclature of Human ABC Transporter Genes.

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Concerted evolution of members of the multisequence family chAB4 located on various nonhomologous chromosomes

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Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family

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Segmental Duplications in the Human Genome

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Ruminant-specific multiple duplication events of PRDM9 before speciation

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A constitutional telomeric translocation showing meiotic instability

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Segmental Duplications

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PEROXISOMAL ABC TRANSPORTERS

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Genomic disorders in the genomics era

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Segmental Duplications and Genetic Disease

Yilmaz, F., Shaikh, T. H., & Emanuel, B. S. (2017) · Wiley eBooks · doi:10.1002/9780470015902.a0006230.pub3 · Cited by 2

SSCP: a tool for contig building of duplicated genomic regions

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Tandem and Interspersed Repeats Contribute to the Mosaic Structure of Segmental Duplications in the Human Genome

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Overview of genetic mutations causing adrenoleukodystrophy: A case-series study

Fathi, M., Khalilian, S., Sayad, A., Karimzadeh, P., Ahmadabadi, F., Ghafouri-Fard, S., & Miryounesi, M. (2025) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2025.101237 · Cited by 2

Basic Concepts in Molecular Pathology

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Chromosome‐specific Repeats (Low‐copy Repeats)

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Segmental duplications and the human genome

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Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation

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Sequence Ready Characterization of the Pericentromeric Region of 19p12

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A Novel Framework for the Identification and Analysis of Duplicons between Human and Chimpanzee

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Evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23

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Genome Plasticity and Chromosome Evolution

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Faculty Opinions recommendation of Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

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Segmental Duplications and Genetic Disease

Emanuel, B. S., & Shaikh, T. H. (2006) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0006230

Euchromatic Variants

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Euchromatic Variants

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Potier, M., Golfier, G., & Eichler, E. E. (2005) · Encyclopedia of Life Sciences · doi:10.1038/npg.els.0005033

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Emanuel, B. S., & Shaikh, T. H. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0006230.pub2

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