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Your search keyword '"Marshall–Smith syndrome"' showing total 109 results

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109 results on '"Marshall–Smith syndrome"'

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1. Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

2. NFIX 基因变异导致一对同卵双胞胎 Marshall-Smith 综合征并文献复习.

3. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome.

4. Bilateral proptosis in Marshall-Smith syndrome

5. Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula

6. Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

7. [ NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].

9. Findings from Department of Neurosurgery Provide New Insights into Marshall-Smith Syndrome (Management of an Older Marshall-smith Syndrome Patient: a Review of Literature of Mss and Craniosynostosis).

10. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

11. Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula.

12. New Marshall-Smith Syndrome Findings from University of Utah Described (Novel Molecular Mechanism In Malan Syndrome Uncovered Through Genome Sequencing Reanalysis, Exon-level Array, and Rna Sequencing).

13. Malan syndrome: Extension of genotype and phenotype spectrum.

14. Further delineation of Malan syndrome.

15. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.

16. Congenital cataract and congenital glaucoma in Marshall-Smith syndrome

17. Nuclear factor I/X (NFIX) regulates the transcriptional activity of the cellular retinoic acid binding protein 2 (CRABP2) promoter and alters CRABP2 expression in Marshall-Smith Syndrome (MSS) patients

18. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series.

19. Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.

20. Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant:Evidence for an abnormal protein function

22. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.

23. [Untitled]

24. Further delineation of Malan syndrome

25. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.

26. A Grain of Normality.

27. Long-term survival of a patient with Marshall-Smith syndrome.

28. A mouse model generated by CRISPR-Cas9 with a frameshift mutation in the nuclear factor 1/X (NFIX) gene has phenotypic features reported in Marshall-Smith Syndrome (MSS) patients

29. Marshall-Smith syndrome.

30. Difficult airway in a patient with Marshall-Smith syndrome.

31. Malan syndrome: Extension of genotype and phenotype spectrum

33. Sindrome de Marshall- Smith en mujer adulta. Nuevos retos en anticoncepción

35. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation

36. Development and behaviour in Marshall-Smith syndrome

37. Maxillomandibular distraction osteogenesis for Marshall–Smith syndrome

38. A Grain of Normality

39. Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

40. Osseous fragility in Marshall-Smith syndrome

41. A pigmentary skin defect is a new finding in Marshall-Smith syndrome

42. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

43. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome

44. Visual impairment and prolonged survival in a girl with Marshall–Smith syndrome

45. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

46. Marshall-Smith Syndrome: Report of a Case and Review of the Literature

47. Inflammatory Cloacogenic Polyp in a Child: Part of the Spectrum of Solitary Rectal Ulcer Syndrome

48. Phenotype and natural history in Marshall-Smith syndrome

49. Respiratory conditions

50. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a sotos-like or a Marshall-Smith syndrome

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