LESSONS IN GENETICS: THE RARE CFTR MUTATION Y301C

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MULTIPLE MUTATIONS IN DOMINANTLY INHERITED DISORDERS: TUBEROUS SCLEROSIS

Autosomal dominantly inherited disorders are caused by mutation on one of the two alleles of one gene. One of he most intriguing questions ...
LARGE DELETIONS/DUPLICATIONS TESTING ON NGS DATA

CNV (Copy Number Variation) analysis - also known as large deletion/duplication testing - has been traditionally performed through dedic...
MICRODELETION OF 17q21.31 AND KANSL1 MUTATIONS: KOOLEN SYNDROME

You are being redirected to the updated version. If you are not redirected in 5 seconds, please click here . Koolen syndrom e is char...
INCOMPLETE PENETRANCE: A TYPICAL FEATURE OF AUTOSOMAL DOMINANT INHERITANCE

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17q12 MICRODELETION IS THE FIRST CHROMOSOMAL ABERRATION DEMONSTRATED TO CAUSE DIABETES (AND THE THIRD TO CAUSE NEPHROPATY)

17q12 microdeletion is the first among chromosomal abnormalities to have been demostrated to cause diabetes and the third to cause ren...
HINTS ON THE TREATMENT OF DYSPLASIA EPIPHYSEALIS HEMIMELICA

Dysplasia epiphysealis hemimelica (DEH, also known as Trevor disease) is a rare developmental disorder characterized by a benign overgrowth ...

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