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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

4. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

5. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

8. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

9. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling

10. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

12. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

14. 'Werner Syndrome foot'—A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease.

17. The genetic landscape of polycystic kidney disease in Ireland

20. Quantifying the contribution of recessive coding variation to developmental disorders

21. A clinical scoring system for congenital contractural arachnodactyly

22. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

23. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

24. Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

29. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

30. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

32. Friedreich Ataxia in Classical Galactosaemia

33. Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

37. ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling

39. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study

41. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

48. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome

49. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

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