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11. Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. Issue 2 (28th January 2016)

12. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Issue 8 (29th September 2020)

13. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Issue 9 (23rd July 2011)

14. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease. (July 2015)

15. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity. Issue 9 (17th June 2014)

16. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

17. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Issue 6 (3rd August 2020)

18. EPCO-38. TYPE B ULTRA LONG-RANGE INTERACTIONS IN PFAS (TULIPS) ARE RECURRENT EPIGENOMIC FEATURES OF PFA EPENDYMOMA. (14th November 2022)

19. Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia. Issue 1 (13th November 2013)

20. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. Issue 5 (19th February 2013)