Most traits in biological populations appear to be under stabilizing selection, which acts to
eliminate quantitative genetic variation. Yet, virtually all measured traits in biological …

Maturity‐onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus
characterized by autosomal dominant inheritance, early age of onset (< 25 years) and …

Maturity‐onset diabetes of the young (MODY) is a monogenic disorder characterized by
autosomal dominant inheritance of young‐onset (typically< 25 years), noninsulin …

Maturity‐onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus
characterized by autosomal dominant inheritance, early age of onset (often< 25 years of …

The main focus of this German‐wide multi‐center study was to establish a BRCA1/2
mutation profile and to determine family types with high frequencies of mutations in these …

Background The high mutational heterogeneity of hemophilia A is a challenge for the
provision of genetic services. We plan to identify the mutation in patients with hemophilia A …

The SHOX (short‐stature homeobox‐containing) gene encodes isoforms of a homeodomain
transcription factor important in human limb development. SHOX haploinsufficiency has …

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive syndrome
associated with chromosomal instability, hypersensitivity to DNA crosslinking agents, and …

Revertant mosaicism due to true back mutations or second-site mutations has been
identified in several inherited disorders. The occurrence of revertants is considered rare, and …

Glanzmann's thrombasthenia (GT) is a genetically heterogeneous autosomal recessive
syndrome associated with a bleeding tendency. To elucidate molecular basis of GT we have …