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Your search keyword '"Cathy Obringer"' showing total 21 results

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21 results on '"Cathy Obringer"'

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1. PATAS, a first-in-class therapeutic peptide biologic, improves whole-body insulin resistance and associated comorbidities in vivo

2. Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

3. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

4. Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

5. Identification and Characterization of a Novel Recurrent

6. Clinical and Mutation Spectra of Cockayne Syndrome in India

7. Relative adipose tissue failure in Alström syndrome drives obesity-induced insulin resistance

8. Author response for 'Early‐onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling'

9. Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

10. Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

11. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

12. Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

13. Non‐invasive, needle‐free drug delivery for treatment of retinal degeneration on Bardet‐Biedl syndrome

14. Growth charts in Cockayne syndrome type 1 and type 2

15. Renal disease in Cockayne syndrome

16. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients withLZTFL1(BBS17) mutations

18. BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

19. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

20. Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

21. PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype

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