527 results on '"Le Merrer, Martine"'
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2. Fibrous dysplasia and McCune–Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines
3. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
4. Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
5. Fibrodysplasia Ossificans Progressiva
6. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
7. C5orf42 is the major gene responsible for OFD syndrome type VI
8. 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
9. Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
10. Mucopolysaccharidosis type I and craniosynostosis
11. Hypophosphatasia: The Disease in Adults
12. Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence
13. Crouzon syndrome with acanthosis nigricans: a case-based update
14. Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity
15. Identification of CANT1 mutations in Desbuquois dysplasia
16. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications
17. The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability
18. Animal models of osteogenesis imperfecta and related syndromes
19. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
20. Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
21. The phenotype of fibrodysplasia ossificans progressiva
22. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation
23. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
24. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
25. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
26. Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
27. Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
28. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
29. Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease
30. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (Report)
31. CEMARA: une plate-forme Web pour les maladies rares
32. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
33. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
34. Progressive Polyepiphyseal Dysplasia With Arthropathy: A Distinct Disorder From Idiopathic Juvenile Arthritis and Pseudorheumatoid Dysplasia?
35. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
36. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
37. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
38. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. (Report)
39. Serpentine Fibula-Polycystic Kidney Syndrome Caused by Truncating Mutations in NOTCH2†
40. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
41. Expanding the skeletal phenotype of Loeys-Dietz syndrome
42. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
43. Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: A register-based study
44. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
45. BBS10 mutations are common in ‘Meckel’-type cystic kidneys
46. Growth charts in Kabuki syndrome 1
47. COL9A3: a third locus for multiple epiphyseal dysplasia
48. Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia
49. Presentation of six cases of Stüve-Wiedemann syndrome
50. Cone-Rod Dystrophy, Growth Hormone Deficiency and Spondyloepiphyseal Dysplasia: Report of a New Case Without Nephronophtisis
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