Sökning: "Hans Van Bokhoven"

Hittade 1 avhandling innehållade orden Hans Van Bokhoven.

1. 1. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

   Författare :Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
   Nyckelord :Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

   Sammanfattning : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. LÄS MER