Concepedia

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini,

Human Genetics · 2006 · 104 citations · 20 references

DOI

Concepts

References

20

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

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Diagnostic Genome Profiling in Mental Retardation

Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink et al. · The American Journal of Human Genetics · 2005 · 604 citations · Full text

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Large-scale genotyping of complex DNA

Giulia C. Kennedy, Hajime Matsuzaki, Shoulian Dong et al. · Nature Biotechnology · 2003 · 568 citations

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

C Shaw-Smith · Journal of Medical Genetics · 2004 · 510 citations · Full text

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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Andrew P. Jackson, Helen Eastwood, Sandra Bell et al. · The American Journal of Human Genetics · 2002 · 474 citations · Full text

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