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- Complex X chromosome rearrangement associated with multiorgan autoimmunity
- DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
- A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
- Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
- Prediction of male-pattern baldness from genotypes
- Sperm aneuploidy in infertile male patients: a systematic review of the literature
- British Society for Dermatopathology
- Genome Report: chromosome-scale genome assembly of the African spiny mouse (<i>Acomys cahirinus</i>)
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