Pages that link to "Q50501398"
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The following pages link to Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility (Q50501398):
Displaying 9 items.
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively (Q24633194) (← links)
- Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1 (Q33910975) (← links)
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements (Q34325126) (← links)
- Genetic Analysis of Short Stature (Q35552721) (← links)
- Centric fission--simple and complex mechanisms. (Q35853955) (← links)
- A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements (Q36488731) (← links)
- Interstitial microdeletion of chromosome 1p in two siblings (Q51953576) (← links)
- Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation (Q64113831) (← links)
- Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation (Q74287588) (← links)