Albert Schinzel

Research interests

Publications

• APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

  Nature · 2010 · https://doi.org/10.1038/nature08875

• Thalassemia Syndromes

  Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731

• Thalassemia Syndromes

  Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731

• Thalassemia Syndromes

  Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  Journal of Medical Genetics · 2007 · https://doi.org/10.1136/jmg.2007.052787

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

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1853

• Angelman syndrome 2005: Updated consensus for diagnostic criteria

  American Journal of Medical Genetics Part A · 2006 · https://doi.org/10.1002/ajmg.a.31074

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

  Nature Genetics · 1997 · https://doi.org/10.1038/ng0797-311

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

  Nature Genetics · 1994 · https://doi.org/10.1038/ng1194-269

• Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

  Nature Genetics · 1992 · https://doi.org/10.1038/ng1292-265

• Catalogue of Unbalanced Chromosome Aberrations in Man

  Journal · 1983 · https://doi.org/10.1515/9783112329047

• Monozygotic twinning and structural defects

  The Journal of Pediatrics · 1979 · https://doi.org/10.1016/s0022-3476(79)80278-4

Current projects

No projects listed.