Search

Your search keyword '"McConkie-Rosell A"' showing total 581 results

Search Constraints

Start Over You searched for: Author "McConkie-Rosell A" Remove constraint Author: "McConkie-Rosell A"
581 results on '"McConkie-Rosell A"'

Search Results

1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

2. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

3. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

4. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

5. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

6. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

8. Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

9. De novo variants in DENND5B cause a neurodevelopmental disorder

10. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

11. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

12. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

13. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

14. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

15. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

16. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

17. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

18. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

19. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

20. High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

21. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

22. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

23. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

24. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

27. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

28. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

30. De novo variants in DENND5B cause a neurodevelopmental disorder

31. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

32. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

33. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

34. Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

35. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

36. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

37. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

38. Germline AGO2 mutations impair RNA interference and human neurological development

39. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

40. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

41. Characteristics of undiagnosed diseases network applicants: implications for referring providers

42. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

43. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

44. Germline AGO2 mutations impair RNA interference and human neurological development

45. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofKCNH5

46. The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.

47. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

49. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

50. The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

Catalog

Books, media, physical & digital resources