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You searched for: Author/Creator Majewski, Jacek

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1. A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. Issue 4 (20th March 2018)

2. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. Issue 9 (23rd August 2011)

3. A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene. Issue 1 (15th September 2016)

5. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. Issue 7 (6th March 2017)

6. ARHGDIA: a novel gene implicated in nephrotic syndrome. Issue 5 (22nd February 2013)

7. Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing. (21st April 2015)

8. Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. (January 2019)

9. Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. (February 2019)