Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari, M Balasubramanian… - Nature …, 2015 - nature.com
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …
被引用次数：167 相关文章

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari… - Nature …, 2015 - pubmed.ncbi.nlm.nih.gov
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari, M Balasubramanian… - Nature …, 2015 - eprints.ncl.ac.uk
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …
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[PDF][PDF] Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nat Genet, 2015 - core.ac.uk
Discovery of most autosomal recessive disease genes has involved analysis of large, often
consanguineous, multiplex families or small cohorts of unrelated individuals with a well …

[引用][C] Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari, M Balasubramanian… - Nature Genetics, 2015 - cir.nii.ac.jp
Discovery of four recessive developmental disorders using probabilistic genotype and
phenotype matching among 4,125 families | CiNii Research CiNii 国立情報学研究所 学術情報 …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

N Foulds, N Akawi, J McRae, S Clayton… - Nature …, 2015 - search.ebscohost.com
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari… - Nature …, 2015 - researchonline.jcu.edu.au
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari… - Nature …, 2015 - eprints.whiterose.ac.uk
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

N Akawi, J McRae, M Ansari, M Balasubramanian… - 2015 - repository.cam.ac.uk
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari, M Balasubramanian… - 2015 - rde.dspace-express.com
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …