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You searched for: Author/Creator Gayevskiy, Velimir

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1. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Issue 2 (19th December 2016)

2. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Issue 12 (7th September 2022)

3. Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma. Issue 6 (11th September 2018)

4. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021)

5. Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. Issue 5 (May 2017)

6. Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer. Issue 12 (2nd December 2018)

7. Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. Issue 4 (31st January 2019)

9. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (16th August 2022)

10. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. (December 2019)