S. Stengel‐Rutkowski
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Chromosomal and Genetic Variations, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired(1998)521 cited
- → Experiences with risk estimates for carriers of chromosomal reciprocal translocations(1992)125 cited
- → Further delineation of the branchio‐oculo‐facial syndrome(1995)94 cited
- → Paternal age and Down's syndrome data from prenatal diagnoses (DFG)(1981)89 cited
- → A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)(2000)78 cited
- → Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother(1996)76 cited
- → Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)(1993)74 cited
- → New chromosomal dysmorphic syndromes(1977)72 cited
- → Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates(1984)64 cited
- → Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: Experiences with dysmorphic syndromes(1994)60 cited