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73 results on '"Lebel RR"'

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2. Single photon emission computerized tomography (SPECT) in detecting neurodegeneration in Huntington's disease

4. Setting limits in Luggnagg

5. Suggestions for medical vocabulary

7. CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

8. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

9. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

10. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

11. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

12. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

13. Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.

14. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

15. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

16. MAGEL2-related disorders: A study and case series.

17. Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.

19. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

21. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

22. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

23. The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

24. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

25. CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

26. Gastrointestinal manifestations in diploid/triploid mixoploidy.

27. A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

28. A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

29. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

30. Risks of reproducing with a genetic disorder.

31. Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

32. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

33. That personal touch.

34. Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy.

36. Fetal peritonitis due to appendiceal rupture: a rare complication of hydrops.

38. Quantitative standards for fetal and neonatal autopsy.

40. Regarding trisomy 18.

41. The duty to re-contact for newly appreciated risk factors: fragile X premutation.

42. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

43. Incidence of abdominal wall defects.

44. Duty to re-contact.

46. Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

48. Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1.

49. Routine childhood varicella vaccination.

50. Gazali-Temple syndrome.

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