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Your search keyword '"Renata Glazar"' showing total 9 results

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2. Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

3. Author response for 'Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia'

4. Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction

6. A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

7. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

8. Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

9. Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

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