16 results on '"Kraatari-Tiri, Minna"'
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2. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
3. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
4. Pathogenic REST variant causing Jones syndrome and a review of the literature
5. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
6. Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
7. Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review
8. Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review
9. Pathogenic REST variant causing Jones syndrome and a review of the literature
10. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study
11. ATM c. 7570G >C is a high‐risk allele for breast cancer
12. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein
13. Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
14. ATM c.7570G>C is a high‐risk allele for breast cancer.
15. Pathogenic RESTvariant causing Jones syndrome and a review of the literature
16. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study
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