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You searched for: Author/Creator Strom, Tim M

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1. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Issue 11 (2nd November 2012)

2. Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. Issue 14 (18th February 2022)

3. Cohen syndrome diagnosis using whole genome arrays. Issue 2 (4th October 2010)

4. Comprehensive analysis of the mutation spectrum in 301 German ALS families. Issue 8 (12th April 2018)

5. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. Issue 9 (21st February 2020)

6. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017)

7. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Issue 12 (30th September 2015)

8. Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas. Issue 3 (March 2016)

9. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018)

10. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012)