45 results on '"Jurek, Marta"'
Search Results
2. Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene
3. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes
4. Genetyka medyczna i molekularna
5. Comprehensive genomic analysis of patients with disorders of cerebral cortical development
6. A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly
7. Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype
8. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
9. Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly
10. Gene Conversion Between Cationic Trypsinogen (PRSS1) and the Pseudogene Trypsinogen 6 (PRSS3P2) in Patients with Chronic Pancreatitis
11. Genetics of Parkinson’s disease in the Polish population
12. Resilience, social functioning and quality of life considerations as found in the narratives of high-functioning autistic adults
13. Expanding the phenotype associated with missense mutations of the ARX gene
14. Speech Understanding by Children Diagnosed with Delayed Verbal Development in the Context of Family Functioning
15. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family
16. The needs of a person with autism spectrum disorders
17. Differential diagnosis with autism spectrum disorders (ASD)
18. Hidden and symbolic violence and abuse in the experiences of people with disabilities
19. Doświadczenia dorosłych dobrze funkcjonujących mężczyzn z autyzmem w poszukiwaniu satysfakcjonujących relacji społecznych w rzeczywistości realnej i wirtualnej
20. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
21. KrainaOza.org and KrainaOza.pl internet platforms as a for m of support in meeting the educational and professional training needs in highly functional autistic persons
22. Intrapsychic and sociodemographic correlates of the quality of life in mothers of children with motoric disability of neurologic etiology
23. The description of educational needs of highly functioning young adults with autism : empirical study
24. Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene
25. Family life dimensions and self-assessment of adolescents and young adults using psychoactive substances : the comparative study
26. Professional identity of the teacher : between the aspiration to the professionalism and the readiness of creating interpersonal relations
27. Educational and training needs of highly functioning individuals with autism illustrated in the example of outcomes of research part of the project PI-PWP Edu–Autism
28. Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease
29. Supporting children's aptitudes : about the importance of environmental stimulation
30. THE MUTATION RESPONSIBLE FOR TORSION DYSTONIA TYPE 1 SHOWS THE ABILITY TO STIMULATE INTRACELLULAR AGGREGATION OF MUTANT HUNTINGTIN.
31. The perception of the teacher's authority by the youth from schools in Cracow : empirical study
32. Interpersonal functioning styles as modifiers of the patterns of health-oriented behaviours in young people
33. A Family With Paroxysmal Nonkinesigenic Dyskinesia: Genetic and Treatment Issues
34. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus–Merzbacher phenotype
35. Influence of extraction conditions on the recovery of the sum of phenolic compounds from daily food rations of students
36. Nuclear Import and Export Signals of Human Cohesins SA1/STAG1 and SA2/STAG2 Expressed in Saccharomyces cerevisiae
37. Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?
38. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
39. Novel mutation ofIL1RAPL1gene in a nonspecific X-linked mental retardation (MRX) family
40. Unaffected patients with a homozygous absence of the SMN1 gene
41. GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY DUE TO SLC2A1 GENE MUTATIONS - A RARE BUT TREATABLE CAUSE OF METABOLIC EPILEPSY AND EXTRAPYRAMIDAL MOVEMENT DISORDER; OWN EXPERIENCE AND LITERATURE REVIEW.
42. O motywowaniu (nie tylko) zdolnego dziecka
43. Rozwój zaburzony czy odmienny : próba analizy pojęciowej w odniesieniu do stanów ze spektrum autyzmu
44. [Torsin 1A and the pathomechanism of torsion dystonia type 1].
45. [Gene mapping in 14 families with X-linked nonspecific mental retardation].
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