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33 results on '"Hogrebe A"'

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5. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

6. Independent control of matrix adhesiveness and stiffness within a 3D self-assembling peptide hydrogel

7. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

8. SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

12. SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

13. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

17. Primary peripheral primitive neuroectodermal tumor/Ewing's tumor of the testis in a 46-year-old man—differential diagnosis and review of the literature

19. DNA and protein microarray printing on silicon nitride waveguide surfaces

22. Fingermark ridge drift

23. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

30. Die quantitative umsetzung des tritierten wassers zu einem kohlenwasserstoff

33. Engineering compendium on radiation shielding

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