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Your search keyword '"Osteopetrosis diagnosis"' showing total 265 results

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265 results on '"Osteopetrosis diagnosis"'

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1. Osteomyelitis and Pathologic Fracture of Mandible in Undiagnosed Osteopetrosis.

2. Diagnosis and treatment process of femoral subtrochanteric fracture in patients with osteopetrosis (marble bone disease): A case report.

3. Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

4. [Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis].

5. Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

6. Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report.

7. The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade.

8. Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.

9. A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.

10. Malignant infantile osteopetrosis in a 3-year-old Yemeni child: a case report.

11. A cross-sectional nationwide survey of osteosclerotic skeletal dysplasias in Japan.

12. Findings on Optical Coherence Tomography in Malignant Infantile Osteopetrosis.

13. Malignant Infantile Osteopetrosis with Bone Marrow Involvement.

15. Brain Abscess in a Patient with Osteopetrosis: A Rare Complication

16. A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.

17. Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.

19. Pleomorphic Sarcoma in a Patient with Osteopetrosis.

20. A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders.

21. Extensive maxillary osteomyelitis following tooth extraction in a patient with osteopetrosis.

23. Malignant Infantile osteopetrosis.

24. Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.

25. High bone mass in adults.

27. Sclerosing bone dysplasias.

29. Osteopetrosis with renal tubular acidosis and cerebral calcification.

30. Infantile Osteopetrosis.

31. A Review of the Clinical, Radiological and Biochemical Characteristics and Genetic Causes of High Bone Mass Disorders.

32. Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.

33. Malignant Infantile Osteopetrosis.

34. Case Report of Clinical Vignette: Osteopetrosis.

35. Infantile Osteopetrosis in a Kazakh Boy.

36. OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.

37. Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

39. Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible.

40. Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

41. A Girl with Bone Sclerosis and Fracture.

42. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report].

43. [Malignant infantile osteopetrosis: Case report of a 5-month-old boy].

44. UNIQUE PRESENTATION OF OSTEOPETROSIS.

47. Oral Manifestations of Osteopetrosis.

48. Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.

49. Osteopetrosis of the Temporal Bone Treated with Cochlear Implant.

50. Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants.

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