Work

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Year: 2007

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/510919

Authors: Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer König, Eva Seemanova, André Megarbane, Hans-Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos

Institutions: Charité – Universitätsmedizin Berlin, University of British Columbia, Bristol Royal Hospital for Children, Katholisches Kinderkrankenhaus Wilhelmstift, University Hospital Frankfurt, Charles University, Saint Joseph University, Max Planck Institute for Molecular Genetics

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, Deutsche Forschungsgemeinschaft

OpenAlex ID: W2001475328

FWCI: 11.58

Cites: 41

Cited by: 366

Related to: 10