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1. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

2. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

3. Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

7. Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder

8. Highlighting the Dystonic Phenotype Related to GNAO1

10. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

11. Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

12. Whole-genome sequencing of patients with rare diseases in a national health system

13. Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.

15. Clinical and genetic characteristics of late-onset Huntington's disease

16. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

18. Task-specific training in Huntington disease: a randomized controlled feasibility trial

19. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

20. Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised [alpha]-fetoprotein

21. Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

24. Contributors

25. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

26. Cognitive decline in Huntington's disease expansion gene carriers

27. Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

28. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

29. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

31. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

33. Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

34. Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

35. An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders

38. Catastrophic visual loss in a patient with Friedreich ataxia

42. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

43. Identification of genetic variants associated with Huntington's disease progression

44. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

45. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

46. Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA Lys (m.8340G>A) gene variant.

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