Registered as a specially authorised society under the Friendly Societies Act (1974). Registration No. 200SA.. Registered Office: British Society for Human Genetics, Clinical…
Syndrome of the month Journal of Medical Genetics 1988. 25. 47-51 Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) CHRISTINE OLEY AND MICHAEL BARAITSER…
Slide 1 Robertsonian chromosome translocations: the basics a tutorial to show how chromosomes which have been rearranged as a result of a Robertsonian translocation can segregate,…
Slide 1 Autosomal recessive inheritance Risks to children where a parent is affected: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern…
Slide 1 Autosomal dominant inheritance Risks to children where both parents are affected: the basics a tutorial to show how the genes segregate to give the typical pedigree…
X-linked recessive inheritance where the mother is a carrier: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon,…
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning { Nathalie Brison1, Philippe Debeer2, Sebastian…
Robertsonian chromosome translocations: the basics a tutorial to show how chromosomes which have been rearranged as a result of a Robertsonian translocation can segregate,…
Slide 1 X-linked dominant inheritance: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon, Clinical Genetics Unit,…