333 research outputs found
Addressing reproductive risk in consanguineous couples
No full textCornel, M.C. [Promotor]Heutink, P. [Promotor]Henneman, L. [Copromotor]Kate, L.P. ten [Copromotor
Preconceptional Carrier Couple Screening for Cystic fibrosis and Hemoglobinopathies : An ancestry-based offer in a multi-ethnic society
No full textCornel, M.C. [Promotor]Kate, L.P. ten [Promotor]Henneman, L. [Copromotor
Lanthanide doped spectral conversion materials for solar cells
No full textRadiation, Radionuclides & ReactorsApplied Science
Completeness of catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
No full textThe completeness of McKusick's catalogs of Mendelian Inheritance in Man (MIM) as to the number of phenotypes included was studied by estimating the degree of concordance with the Dutch Gene Catalog of the Department of Medical Genetics of the University of Groningen, The Netherlands. On a total of 355 Mendelian phenotypes described in persons living in The Netherlands or originating from this country, there were nine disease entities which were not present in MIM. As judged from this comparison MIM attains 97.5% completeness (95% CI: 95.3-98.7%). Similar comparisons with data from other countries are needed before a final conclusion can be reached. Corresponding contributors in different countries or linguistic areas might further improve MIM's completeness
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria
No full text
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability
No full text- …
