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Your search keyword '"Panneman, Daan M."' showing total 24 results

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24 results on '"Panneman, Daan M."'

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1. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan

3. Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

4. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

6. Elevated Plasma Complement Factors in CRB1-associated Inherited Retinal Dystrophies

7. In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

8. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

9. In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

10. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

11. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

12. Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

13. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

14. Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

15. Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.

16. Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation

17. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

18. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

19. Reduced ech-6 Expression Attenuates Fat-induced Premature Aging in C. elegans

20. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

21. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

22. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

23. Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

24. Soluble adenylyl cyclase regulates the cytosolic NADH/NAD + redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation.

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