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1. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

5. Clinical heterogeneity of polish patients with KAT6B–related disorder

6. Natural History of MYH7-Related Dilated Cardiomyopathy

7. Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis

10. Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene

12. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

16. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

17. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes

18. Monogenic variants in dystonia: an exome-wide sequencing study

19. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion

20. Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

25. Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement

26. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

27. DNA-based predictive models for the presence of freckles

29. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

31. Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression

32. Sensitivity of Next-Generation Sequencing Metagenomic Analysis for Detection of RNA and DNA Viruses in Cerebrospinal Fluid: The Confounding Effect of Background Contamination

33. Tyrosine kinase inhibitor–induced defects in DNA repair sensitize FLT3(ITD)-positive leukemia cells to PARP1 inhibitors

40. Gender Influences Gut Microbiota among Patients with Irritable Bowel Syndrome

41. Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation

44. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

45. Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis

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