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Host institution [PL]: Instytut Matki i Dziecka

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17 projects found matching your search criteria:

1. Identification and characterization of new genetic variants associated with disturbances in the metabolism of biogenic a…

Principal investigator: dr hab. Agnieszka Magdalena Rygiel

Instytut Matki i Dziecka

Call: OPUS 22, Panel: NZ5
2. Dissecting the clinical complexity of 22q11 Deletion Syndrome by deep phenotyping and functional genomics.

Principal investigator: dr hab. Beata Anna Nowakowska

Instytut Matki i Dziecka

Call: OPUS 19, Panel: NZ5
3. Application of array comparative genomic hybridization (aCGH) to identify submicroscopic aberration and lethal genes in …

Principal investigator: Katarzyna Kowalczyk

Instytut Matki i Dziecka

Call: PRELUDIUM 12, Panel: NZ2
4. Research on a pathogenesis of cognitive and neurofunctioning impairments in patients with Noonan syndrome. A role of RAS…

Principal investigator: Natalia Braun-Walicka

Instytut Matki i Dziecka

Call: PRELUDIUM 11, Panel: HS6
5. Identification of novel genetic variants associated with risk of chronic pancreatitis by whole exome sequencing.

Principal investigator: dr hab. Agnieszka Magdalena Rygiel

Instytut Matki i Dziecka

Call: OPUS 10, Panel: NZ5
6. Identification of genes controlling brain development through genomic analysis of patients with microcephaly

Principal investigator: dr hab. Wojciech Krzysztof Wiszniewski

Instytut Matki i Dziecka

Call: OPUS 10, Panel: NZ2
7. Investigation of genetic variants underlying variability in patients with 22q11 Deletion Syndrome.

Principal investigator: dr Beata Anna Nowakowska

Instytut Matki i Dziecka

Call: OPUS 9, Panel: NZ5
8. Phenotypical variability of the epileptic syndromes due to Nav1.1 ion channel mutations.

Principal investigator: dr Dorota Maria Hoffman-Zacharska

Instytut Matki i Dziecka

Call: OPUS 9, Panel: NZ4
9. Genetic risk factors in the Kashubian population and their involvement in the pathogenesis of autosomal recessive intell…

Principal investigator: dr Agnieszka Katarzyna Charzewska

Instytut Matki i Dziecka

Call: SONATA 8, Panel: NZ5
10. Molecular basis of isolated hearing loss in group of Polish patients - using of Next Generation Sequencing to identify g…

Principal investigator: Katarzyna Agnieszka Niepokój

Instytut Matki i Dziecka

Call: PRELUDIUM 7, Panel: NZ5
11. Change in global gene expression versus keratin and lipid profile in rare skin disorders from the group of ichthyosis.

Principal investigator: dr Katarzyna Maria Wertheim-Tysarowska

Instytut Matki i Dziecka

Call: SONATA 7, Panel: NZ5
12. micro-RNAs related to cardiac hypertrophy and fibrosis in the molecular mechanisms of the left ventricular response to v…

Principal investigator: Ewa Maria Szczerba

Instytut Matki i Dziecka

Call: PRELUDIUM 6, Panel: NZ5
13. Physical and social school environment and quality of school performance in relation to adolescent subjective health and…

Principal investigator: dr hab. Joanna Teresa Mazur

Instytut Matki i Dziecka

Call: OPUS 5, Panel: HS6
14. The identification of new genes related to Noonan syndrome pathogenesis - functional analysis of identified variants in …

Principal investigator: dr Monika Ewa Gos

Instytut Matki i Dziecka

Call: OPUS 5, Panel: NZ2
15. Attempt to identify and define the functional changes of genes related to intellectual and cognitive abilities.

Principal investigator: prof. Jerzy Bal

Instytut Matki i Dziecka

Call: OPUS 4, Panel: NZ4
16. Identification of genes controlling neuronal migration in development of the human nervous system

Principal investigator: dr hab. Wojciech Krzysztof Wiszniewski

Instytut Matki i Dziecka

Call: HARMONIA 3, Panel: NZ2
17. Molecular variation of RAS-MAPK pathway genes and phenotypic expression of Noonan syndrome

Principal investigator: dr Jakub Klapecki

Instytut Matki i Dziecka

Call: SONATA 1, Panel: NZ5

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