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25 results on '"Rudnik-Schöneborn, S."'

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1. Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

2. Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany.

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3. Diagnostic algorithms in Charcot--Marie--Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

4. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

5. Clinical features of unilateral multicystic renal dysplasia in children.

6. Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.

7. Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.

8. Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy — Report of a Discordant Sibship with a Compound Heterozygous Mutation of the KCC3 Gene.

9. Becker’s muscular dystrophy aggravating facioscapulohumeral muscular dystrophy – double trouble as an explanation for an atypical phenotype

10. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH

11. Heterogeneity in proximal spinal muscular atrophy.

15. L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)

16. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.

17. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).

18. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

19. Life with too much polyprenol: polyprenol reductase deficiency

20. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

21. Psychopathology and familial stress - comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy.

22. Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy.