164 results on '"Baujat, Genevieve"'
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2. Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta
3. Parents’ Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia
4. Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility
5. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
6. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
7. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
8. Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome
9. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
10. Growth charts in Cockayne syndrome type 1 and type 2
11. Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry
12. A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
13. Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions
14. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
15. Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization
16. Evaluation of nasal obstruction in children by acoustic rhinometry: A prospective study
17. Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive
18. Real-world evidence in achondroplasia:considerations for a standardized data set
19. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
20. The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
21. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
22. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
23. Central sleep apnea in children: experience at a single center
24. Craniovertebral Junction Anomalies in Achondroplastic Children
25. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
26. Clinical and neuroradiological features of the 9p deletion syndrome
27. Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
28. Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
29. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
30. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
31. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
32. Author response: EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
33. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (Nature Communications, (2020), 11, 1, (4589), 10.1038/s41467-020-18146-9)
34. Craniovertebral Junction Anomalies in Achondroplastic Children
35. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
36. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
37. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
38. Germline mutations in FGF receptors and medulloblastomas
39. Familial Gigantism Caused by an NSD1 Mutation
40. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
41. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
42. Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues
43. Palovarotene inhibits the development of new heterotopic ossification in fibrodysplasia ossificans progressiva (FOP)
44. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes
45. Anatomical and functional abnormalities on MRI in kabuki syndrome
46. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
47. The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
48. Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations
49. Retrospective analysis of sleep breathing disorders in mucopolysaccharidosis type IVA
50. Juvenile osteoporosis with calvarial doughnuts: Progressive high-turnover bone loss responsive to bisphosphonate therapy
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