Albert Schinzel

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Charles A. Williams, Arthur L. Beaudet, Jill Clayton‐Smith et al. · American Journal of Medical Genetics Part A · 2006 · 646 citations

Medicine, Neurology, Psychiatry +12

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Michael J. Bamshad, Robert C. Lin, David Law et al. · Nature Genetics · 1997 · 546 citations

Life Sciences, Genetics, Molecular Genetics +12

Monozygotic twinning and structural defects

Albert Schinzel, David W. Smith, James R. Miller · The Journal of Pediatrics · 1979 · 530 citations

Life Sciences, Genetics, Human Genetics +8

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt et al. · Nature Genetics · 2006 · 471 citations

Life Sciences, Genetics, Molecular Genetics +16