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177 results on '"Małgorzata, Rydzanicz"'

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1. Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males

2. Non-infectious mixed cryoglobulinemia as a new clinical presentation of mutation in the gene encoding coatomer subunit alpha: a case report of two adult sisters

3. Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

4. Enteroviral central nervous system infections in patients with Lyme neuroborreliosis

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

6. Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea

7. FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

8. The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers

9. Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

10. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

11. Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing

12. Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

13. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

14. Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

15. Search for viral agents in cerebrospinal fluid in patients with multiple sclerosis using real-time PCR and metagenomics.

16. Clinico-pathological correlation in case of BRAT1 mutation

17. Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

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

19. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

20. A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

21. Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

22. Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

23. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

24. Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes

26. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

27. Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

28. Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

30. The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers

31. A novel KEL c.1414‐1G>T allele in a polish patient with <scp>anti‐Ku</scp> antibody

32. Results of Polish Adult Leukemia Study Group (PALG) project assessing TP53 mutations with next-generation sequencing technology in relapsed and refractory chronic lymphocytic leukemia patients — an 18-month update

33. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe

34. CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts

35. Harnessing the potential of the environmental microbiome in forensic science

36. A novelde novoFEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

37. Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

38. First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in VHL gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases

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

40. Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review

41. Next-generation sequencing in the diagnosis of viral encephalitis: sensitivity and clinical limitations

42. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

43. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

44. Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

45. Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis

46. Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

47. Postzygotic mutations and where to find them - Recent advances and future implications in the field of non-neoplastic somatic mosaicism

48. The emerging role of reassessment of genetic testing results in the diagnosis of the unexplained sudden cardiac arrest's causes

49. Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Cancers Identifies KMT2C as a Potential Tumor Suppressor

50. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

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