Gretel Beck
Osaka Prefectural Medical Center(JP)Osaka City General Hospital(JP)
Publications by Year
Research Areas
Retinal Diseases and Treatments, Retinal Development and Disorders, Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Autism Spectrum Disorder Research
Most-Cited Works
- → Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia(2002)562 cited
- → Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate(2000)501 cited
- → Identification of the gene that, when mutated, causes the human obesity syndrome BBS4(2001)269 cited
- → Evidence supporting WNT2 as an autism susceptibility gene(2001)206 cited
- An analysis of allelic variation in the ABCA4 gene.(2001)
- → Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)(2003)136 cited
- → Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome(1999)123 cited
- → Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries(1998)25 cited
- → A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan(2005)16 cited
- The University of Iowa gene discovery program(1999)