Concepedia

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

Joanna Moss, Chris Oliver, Kate Arron, Cheryl Burbidge, Katy Berg

Journal of Autism and Developmental Disorders · 2008 · 256 citations · 53 references

DOI

Concepts

References

53

The American Journal of Human Genetics

J. S. · Population · 1950 · 5.1K citations

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Autism screening questionnaire: Diagnostic validity

Sibel Kazak Berument, Michael Rutter, Catherine Lord et al. · The British Journal of Psychiatry · 1999 · 1.5K citations · Full text

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 722 citations · Full text

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Emma Tonkin, Tzu-Jou Wang, Steven Lisgo et al. · Nature Genetics · 2004 · 597 citations

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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 522 citations · Full text

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