177 results on '"Gos, Monika"'
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2. Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy
3. Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
4. Genetyka medyczna i molekularna
5. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling
6. Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel’s Deformity with Unusual Associations
7. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
8. Newborn screening and gene therapy in SMA: Challenges related to vaccinations
9. Destabilization of mutated human PUS3 protein causes intellectual disability
10. Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients
11. Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths
12. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects
13. Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation
14. Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling
15. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
16. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
17. Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing
18. Rdzeniowy zanik mięśni
19. Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
20. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
21. Identification of mutations in theNF2 gene in Polish patients with neurofibromatosis type 2
22. Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
23. Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex
24. The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (p.Gln1981*)
25. Unusual cyclin D1 positive marginal zone lymphoma of mediastinum
26. Splicing mutations in human genetic disorders: examples, detection, and confirmation
27. Mantle cell lymphoma presenting with paraproteinemia
28. Successful Salvage Treosulfan-Based Megachemotherapy With Allogeneic Stem Cell Transplantation in Nonsyndromic, Therapy-Resistant Disseminated Juvenile Xanthogranuloma: A Case Report
29. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
30. Mutation in the KRT1 gene causing epidermolysis bullosa simplex
31. Zespół łamliwego chromosomu X i choroby FMR1-zależne - postępowanie diagnostyczne na podstawie doświadczeń własnych
32. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene
33. Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal
34. MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease
35. The MED13Lhaploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)
36. P2.01-004 The Methylation Profiling of Multiple Tumor Suppressor Genes in Plasma Cell-Free DNA of Patients with NSCLC vs Benign Tumors
37. NovelCol12A1variant expands the clinical picture of congenital myopathies with extracellular matrix defects
38. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
39. Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab
40. Zespół Noonan u noworodka z przeważającymi objawami niewydolności oddechowej oraz kardiomiopatii przerostowej i nadciśnienia płucnego
41. Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K)
42. Neurofibromin – protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis
43. ZESPÓŁ ŁAMLIWEGO CHROMOSOMU X I CHOROBY FMR1-ZALEŻNE - OBJAWY KLINICZNE, EPIDEMIOLOGIA I PODŁOŻE MOLEKULARNE CHOROBY.
44. Rare variants inSOS2andLZTR1are associated with Noonan syndrome
45. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs
46. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
47. Epigenetic mechanisms of gene expression regulation in neurological diseases
48. GENETIC ANALYSIS IN INHERITED METABOLIC DISORDERS - FROM DIAGNOSIS TO TREATMENT. OWN EXPERIENCE, CURRENT STATE OF KNOWLEDGE AND PERSPECTIVES.
49. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
50. Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal
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