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3. Nosology of genetic skeletal disorders: 2023 revision.

4. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront

6. AI-based diagnosis and phenotype – Genotype correlations in syndromic craniosynostoses

7. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

8. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

11. Real-world evidence in achondroplasia: considerations for a standardized data set

13. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

14. Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.

15. Natural history of Myhre syndrome

16. Optimising care and follow-up of adults with achondroplasia

20. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

21. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

23. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

25. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

27. Fetal and Perinatal Skeletal Dysplasias

28. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

32. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

35. THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials

36. OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study

37. THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

38. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

39. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

41. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

42. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

43. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

46. Nosology of genetic skeletal disorders: 2023 revision

47. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

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

49. Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

50. 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

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