529 results on '"Cormier‐Daire, Valerie"'
Search Results
2. Osteogenesis Imperfecta: A study of the patient journey in 13 European countries
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
5. Foetal achondroplasia: Prenatal diagnosis, outcome and perspectives
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
9. ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions
10. Parents’ Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia
11. Real-world evidence in achondroplasia: considerations for a standardized data set
12. An intermediate phenotype in IDH related enchondromatosis spectrum
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
17. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
18. Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome
19. Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases
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
22. The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases
23. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
24. A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
25. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
26. Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions
27. Fetal and Perinatal Skeletal Dysplasias
28. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
29. The first European consensus on principles of management for achondroplasia
30. Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification
31. Dysplasies spondylo-épiphysaires
32. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
33. Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive
34. Coordination du réseau des acteurs de la prise en charge d’une maladie osseuse constitutionnelle
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
40. Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases
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
44. P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*
45. Central sleep apnea in children: experience at a single center
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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