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Your search keyword '"Toussaint, Aurélie"' showing total 14 results

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14 results on '"Toussaint, Aurélie"'

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1. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant

2. The Case | Epistasis and urolithiasis

3. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

5. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

6. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

7. Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

8. Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

9. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

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