30 results on '"Doheny, Dana"'
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2. Association of a Missense Change in the D2 Dopamine Receptor with Myoclonus Dystonia
3. Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria
4. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
5. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease
6. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations
7. Mutation at the SCA17 locus is not a common cause of parkinsonism
8. Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study
9. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017
10. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
11. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac, and stroke clinics
12. The Fabry disease genotype-phenotype database (dbFGP): an international expert consortium
13. Acute Intermittent Porphyria in children: A case report and review of the literature
14. A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families
15. Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
16. Evolution of cardiac pathology in type 1 classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy
17. MOESM1 of Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria
18. Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?
19. Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism
20. Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent in patients with GLA later-onset mutations, polymorphisms, and variants
21. The Fabry genotype-phenotype database: an international expert consortium
22. Essential considerations for evaluating therapeutic effectiveness in Fabry disease
23. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017
24. Warfarin pharmacogenetics: A controlled dose–response study in healthy subjects
25. A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci
26. QUANTITATIVE PHARMACOGENOMICS OF THE ANTICOAGULANT RESPONSE TO WARFARIN IN HEALTHY SUBJECTS
27. ε‐sarcoglycan mutations found in combination with other dystonia gene mutations
28. Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study.
29. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
30. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
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