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Institute of Medical Genetics News, Events & Publications


ZORA note on the authors' stated information

  • In the exportable list, publications with less than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
  • For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. In the same step, an "et al" is created.  If this leaves out UZH authors, they were added at the end, after "et al".
  • More information: Varia | University Library Zurich | UZH
  • For the complete listing of authors in order of publication, please use the authors list at the original publication. Or alternatively use the text file at the bottom of this page.

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Khan N, Schinzel A, Shuknecht B, Baumann F, Østergaard JR, Yonekawa Y Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004;51:72-77

Zankl A, Scheffer H, Schinzel A Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or new entity? Am J Med Genet 2004;127A:74-80

Nazarenko S, Sazhenova E, Baumer A, Schinzel A Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome Eur J Hum Genet 2004;12:411-414

Zankl A, Brooks D, Boltshauser E, Largo R, Schinzel A Natural history of twin disruption sequence Am J Med Genet 2004;127A:133-138

Baumer A, Riegel M, Schinzel A Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion J Med Genet 2004;41:413-420

Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 2004; 23:526-531

Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM De novo complex chromosome rearrangement: A study of two patients Genet Couns 2004:15:303-310

Czakó M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q Am J Med Genet 2004; 131A:310-312

Zerova-Ljubimova TE, Riegel M, Smulskaja NA, Eveenkova EG, Gorovenko NG, Schinzel A Molecular-cytogenetic identification of partial duplication of short arm of chromosome 8 Cytology and Genetics (Ukraine) 2004;4:55-61

Zankl A Computer-aided anthropometry in the evaluation of dysmorphic children Pediatrics 2004;114:333-336