D. Mann

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

P. Fraser, E. Rogaeva, A. L. Jørgensen, 1999, Neuroreport.

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

D. Geschwind, G. Schellenberg, B. Miller, 2007, The Lancet Neurology.

Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.

G. Chrousos, G. Cutler, D. Loriaux, 1982, Hormone research.

Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.

G. Chrousos, G. Cutler, D. Loriaux, 1982, Annals of internal medicine.

Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8

S. Gogineni, R. Verma, D. Mann, 1996, The Japanese journal of human genetics.