18 results on '"van Heyningen, Veronica"'
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2. Non-Coding Sequence Variation Effects on Tissue-Specific Gene Expression
3. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
4. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
5. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
6. Auditory Interhemispheric Transfer Deficits, Hearing Difficulties, and Brain Magnetic Resonance Imaging Abnormalities in Children With Congenital Aniridia Due to PAX6 Mutations
7. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
8. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
9. Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy
10. Mechanisms of non-Mendelian inheritance in genetic disease
11. PAX6 in sensory development
12. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
13. Medicine: Short cut to disease genes
14. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
15. Developmental eye disease - a genome era paradigm
16. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
17. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus
18. A new PAX6 mutation in familial aniridia
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