21 results on '"Niel, Florence"'
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2. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients
3. Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy
4. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
5. ZFHX1B Mutations in Patients With Mowat-Wilson Syndrome
6. Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
7. Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
8. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens
9. Histologic phenotype–genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
10. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
11. Leucoencephalopathy with vanishing white matter as a cause of progressive myoclonus epilepsy
12. Leukoencephalopathy with vanishing white matter as a cause of progressive myoclonus epilepsy
13. Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease
14. Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family
15. Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
16. Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations
17. The E148QMEFV allele is not implicated in the development of familial Mediterranean fever
18. Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (CHST6) Result in Macular Corneal Dystrophy
19. Prenatal Detection by Real-Time Quantitative PCR and Characterization of a New CFTR Deletion, 3600+15kbdel5.3kb (or CFTRdele19)
20. Organization and Sequence of Human Cardiac Myosin Binding Protein C Gene (MYBPC3) and Identification of Mutations Predicted to Produce Truncated Proteins in Familial Hypertrophic Cardiomyopathy.
21. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.
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