Albert Schinzel - Concepedia

Author

Albert Schinzel

Also Known As

A A Schinzel, A SCHINZEL, A Schinzel, A. A. SCHINZEL, A. A. Schinzel, A. SCHINZEL, A. Schinzel, A.A. (a) Schinzel, ALBERT SCHINZEL, Albert A Schinzel

1.7K

Publications

23.1K

Citations

H-Index

216

Concepts

All Affiliations

University of Zurich Radboud University Nijmegen University Children's Hospital Zurich University Hospital of Zurich

About

Albert Schinzel is an author at University of Zurich specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	57	145	11.5K
2	Health Sciences	9	9	443
3	Arts	2	2	63
4	Engineering	2	2	39
5	Education	1	1	80

Albert Schinzel

235

Publications

17.1K

Citations

H-Index

Page 1

	Year	Citations
Angelman syndrome 2005: Updated consensus for diagnostic criteria Charles A. Williams, Arthur L. Beaudet, Jill Clayton‐Smith, American Journal of Medical Genetics Part A Clinical DisordersClinical FindingMedicineAngelman SyndromeDiagnostic Criterion	2006	627
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Maximilian Muenke, Ute Schell, Andreas Hehr, Nature Genetics FibrosisMendelian DisorderCommon MutationGenetic DisorderGenetics	1994	622
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome Michael J. Bamshad, Robert C. Lin, David Law, Nature Genetics Developmental BiologyMammary Gland DevelopmentGenital DevelopmentMendelian DisorderGenetic Disorder	1997	543
Monozygotic twinning and structural defects Albert Schinzel, David W. Smith, James R. Miller The Journal of Pediatrics Genome InstabilityDevelopmental BiologyGenetic DisorderMedicineGenetics	1979	530
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nature Genetics Genetic DisorderGeneticsCommon Inversion PolymorphismHuman PolymorphismPathology	2006	466
Angelman syndrome: Consensus for diagnostic criteria Charles A. Williams, Harry Angelman, Jill Clayton‐Smith, American Journal of Medical Genetics Clinical FindingAngelman SyndromeMedicineDiagnosisNeuropathology	1995	362
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients Manuela De Gregori, Roberto Ciccone, Pamela Magini, Journal of Medical Genetics	2007	354
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Robert Lyle, Frédérique Béna, Sarantis Gagos, European Journal of Human Genetics Down SyndromeArray CghCytogeneticsGenetic DisorderGenetics	2008	325
Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation Dieter Kotzot, Silke Schmitt, Fabiana Bernasconi, Human Molecular Genetics	1995	302
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region Tayfun Özçelık, Stuart E. Leff, Wendy P. Robinson, Nature Genetics Small Nuclear RibonucleoproteinTranscriptional RegulationGenetic DisorderNatural SciencesGenetics	1992	295

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