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1. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

2. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

3. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

4. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

6. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

7. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

8. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

9. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

10. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

11. An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

12. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

14. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

15. CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

17. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

18. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

19. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

20. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

21. Expanding the phenotype ofTAB2variants and literature review

23. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

24. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

25. Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

26. Prevalence and architecture of de novo mutations in developmental disorders

27. Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study

29. Expanding the phenotype of TAB2 variants and literature review.

31. Fatal insomnia: the elusive prion disease

33. The contribution of X-linked coding variation to severe developmental disorders

34. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

35. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

36. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

37. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

38. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

39. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

40. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

45. Legius Syndrome in Fourteen Families

46. Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

50. TCF4 Deletions in Pitt-Hopkins Syndrome

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