Search

Your search keyword '"Dieux, Anne"' showing total 30 results

Search Constraints

Start Over You searched for: Author "Dieux, Anne" Remove constraint Author: "Dieux, Anne"
30 results on '"Dieux, Anne"'

Search Results

1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

3. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

4. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

7. First evidence ofSOX2mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

8. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

9. Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion

10. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

12. The clinical significance of small copy number variants in neurodevelopmental disorders

13. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

14. Liste des collaborateurs

16. Functional characterization vs in silicoprediction for TBX5missense and splice variants in Holt-Oram syndrome

17. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

18. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

19. 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

20. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.

22. Association Between Kniest Dysplasia and Chondrosarcoma in a Child

23. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

24. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

25. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

26. Molecular and cellular issues of KMT2Avariants involved in Wiedemann-Steiner syndrome

27. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

28. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

29. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

30. Association between Kniest dysplasia and chondrosarcoma in a child.

Catalog

Books, media, physical & digital resources