16 results on '"Fitzpatrick, David"'
Search Results
2. Lung Cancer in the Republic of Ireland.
3. The genetic architecture of microphthalmia, anophthalmia and coloboma.
4. Retrieval of Additional Epinephrine From Auto-Injectors.
5. Developmental eye disorders
6. Genetics of disease: From human malformations to biological themes
7. Epinephrine Autoinjector Warning.
8. Genetic and epigenetic approaches to understanding the basis of human developmental anomalies
9. Cornelia de Lange syndrome
10. The evolutionary history of the genes involved in the biosynthesis of the antioxidant ergothioneine.
11. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
12. Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
13. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
14. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
15. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.
16. 15-P038 Stra6.2: A novel member of the STRA6 gene family
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