Concepedia

A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation

Antoinet C.J. Gijsbers, Emilia K. Bijlsma, Marjan M. Weiss, Egbert Bakker, Martijn H. Breuning, Mariette J. V. Hoffer, Claudia Ruivenkamp

European Journal of Medical Genetics · 2008 · 12 citations · 17 references

DOI

Concepts

References

17

Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection

Cheng Li, Wing Hung Wong · Proceedings of the National Academy of Sciences · 2000 · 3.2K citations · Full text

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Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection

C. Li · Proceedings of the National Academy of Sciences · 2000 · 684 citations

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel et al. · The American Journal of Human Genetics · 2006 · 396 citations · Full text

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

Stefan J. White, Geraldine R. Vink, Marjolein Kriek et al. · Human Mutation · 2004 · 152 citations

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