Concepedia

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

Markus Draaken, Heiko Reutter, Charlotte Schramm, Enrika Bartels, Thomas M. Boemers, Anne‐Karoline Ebert, Wolfgang Rösch, Annette Schröder, Raimund Stein, Susanne Moebus,

European Journal of Medical Genetics · 2010 · 123 citations · 25 references

DOI

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25

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

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Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Stefano Colella, Christopher Yau, Jennifer M. Taylor et al. · Nucleic Acids Research · 2007 · 627 citations · Full text

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A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Robert J. Shprintzen, Rosalie Goldberg, Michael L. Lewin et al. · PubMed · 1978 · 598 citations

, , +17

Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: Rationale and design of the Heinz Nixdorf RECALL Study

Axel Schmermund, Stefan Möhlenkamp, Andreas Stang et al. · American Heart Journal · 2002 · 576 citations

, , +15