12 results on '"FitzPatrick, David R."'
Search Results
2. The genetic architecture of microphthalmia, anophthalmia and coloboma.
3. Developmental eye disorders
4. Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects
5. Genetics of disease: From human malformations to biological themes
6. Genetic and epigenetic approaches to understanding the basis of human developmental anomalies
7. Cornelia de Lange syndrome
8. Transforming growth factor betas in mammalian embryogenesis
9. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
10. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
11. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
12. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.
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