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You searched for: Author/Creator Dohrn, Maike F.

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1. Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect. Issue 1 (1st January 2021)

2. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022)

3. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022)

5. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies. Issue 5 (7th November 2017)

7. Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia. Issue 2 (14th October 2021)

8. Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis. (July 2021)

9. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. (23rd March 2022)