Rudolf A. Pfeiffer - Concepedia

Author

Rudolf A. Pfeiffer

Friedrich-Alexander-Universität Erlangen-Nürnberg

Also Known As

RUDOLF A. PFEIFFER, Rudolf A. Pfeiffer, Rudolf Artur Pfeiffer

Publications

910

Citations

H-Index

Concepts

All Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg Great Ormond Street Hospital University College London University of Antwerp Praxis für Humangenetik

About

Rudolf A. Pfeiffer is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	13	762
2	Public Health	4	4	212
3	Emergency Medicine	2	2	86
4	Natural Sciences	1	1	17
5	Biology	1	1	77

Rudolf A. Pfeiffer

Publications

821

Citations

H-Index

Page 1

	Year	Citations
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation Anita Rauch, Stefan Schellmoser, Cornelia Kraus, American Journal of Medical Genetics Developmental AnomalyCause Wolf-hirschhorn SyndromeDevelopmental BiologyMendelian DisorderGenetic Disorder	2001	126
A Novel 22q11.2 Microdeletion in DiGeorge Syndrome Anita Rauch, Rudolf A. Pfeiffer, Georg Leipold, The American Journal of Human Genetics Mendelian DisorderNovel 22Q11.2Genetic DisorderGeneticsPathogenesis	1999	105
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 Jutta Wirth, Thomas Wagner, Jobst Meyer, Human Genetics Mendelian DisorderCytogeneticsGenetic DisorderGeneticsTranslocation Breakpoints	1996	96
Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity Peter Gustavsson, Emanuela Garelli, Natalia Draptchinskaia, The American Journal of Human Genetics BiologyGenetic AnalysisAllelic VariantGenetic DisorderMedicine	1998	77
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis Karin Michels-Rautenstrauss, Christian Y. Mardin, Wido M. Budde, Human Genetics Ocular DiseaseOphthalmologyGenetic DisorderGeneticsMolecular Genetics	1998	76
Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch Anita Rauch, Michael Hofbeck, Georg Leipold, American Journal of Medical Genetics Vascular DiseaseHeart FailureGeneticsGenetic EpidemiologyPathology	1998	73
REPORTS Nathaniel H. Robin, George Feldman, Heather F. Mitchell, Human Molecular Genetics	1994	59
Identification of a <i>de novo</i> insertional mutation in P<sub>o</sub> in a patient with a Déjérine - Sottas syndrome (DSS) phenotype Bernd Rautenstrauβ, Eva Nelis, H. Grehl, Human Molecular Genetics NeurogenomicsGeneticsPathologyDisease Gene IdentificationGenetic Medicine	1994	49
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation Beatrice Schmucker, Wolfgang G. Ballhausen, Rudolf A. Pfeiffer Human Genetics ChromatinFmr1 GeneMendelian DisorderCytogeneticsGenetic Disorder	1996	47
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21 Rudolf A. Pfeiffer, E. Kessel, Karl‐Heinz Soer Clinical Genetics Down SyndromeChromatinMendelian DisorderMental DeficiencyCytogenetics	1977	37

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