J. Horst
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Iron Metabolism and Disorders, Cystic Fibrosis Research Advances
Most-Cited Works
- → Factor VIII gene inversions in severe hemophilia A: results of an international consortium study(1995)360 cited
- → Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance(1998)255 cited
- → Escherichia coli mutator genes(1999)184 cited
- → Novel paradigms for drug discovery: computational multitarget screening(2008)145 cited
- → Hereditary Prosopagnosia: the First Case Series(2007)143 cited
- → Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation(1997)93 cited
- → Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria(1991)93 cited
- → Prevalence of α-thalassemias in northern Thailand(1996)86 cited
- → A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the gene(2005)78 cited
- → Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations(1998)74 cited