B Wittwer
University of Münster(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Retinal Development and Disorders, Ubiquitin and proteasome pathways, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)(1996)479 cited
- → Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III(2001)234 cited
- → Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain(1998)69 cited
- → A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa(1995)57 cited
- → Information about diploid‐tetraploid mosaicism in a six‐year‐old male(1985)16 cited
- → Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome(2000)14 cited
- → New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3(1996)12 cited
- → Dermatoglyphic features of a male with diploid/tetraploid mosaicism(1989)1 cited
- Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps in Xp22-pter(1994)
- → New X‐linked mental retardation syndrome with the gene mapped tentatively in Xp22.3(1996)