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Your search keyword '"FitzPatrick, David R"' showing total 32 results

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32 results on '"FitzPatrick, David R"'

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1. Prevalence and architecture of de novo mutations in developmental disorders

2. The UK10K project identifies rare variants in health and disease

4. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

5. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

8. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

10. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

12. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

13. Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

14. Miller (Genée–Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

22. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

25. Identification of SATB2 as the cleft palate gene on 2q32–q33

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