20 results on '"FitzPatrick, David R."'
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2. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations
3. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability
4. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
5. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
6. Cornelia de Lange syndrome: Extending the physical and psychological phenotype
7. Familial recurrence ofSOX2anophthalmia syndrome: Phenotypically normal mother with two affected daughters
8. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287-1296
9. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
10. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
11. Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy
12. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
13. SOX2 anophthalmia syndrome
14. C ornelia de L ange Syndrome
15. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3
16. Paradoxical role of programmed death-1 ligand?2 in Th2 immune responsesin vitro and in a mouse asthma modelin vivo
17. Carey-Fineman-Ziter (CFZ) syndrome: Report on affected sibs
18. Clinical phenotype of desmosterolosis
19. Differential activation of T cell cytokine production by the extracellular signal-regulated kinase (ERK) signaling pathway
20. The role of TGF‐βs in mammalian development and neoplasia
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