Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease

The Global Leadership Mentoring Community: building capacity across seven global regions.

International nursing review·2020

Patient understanding of genetic information influences reproductive decision making in retinoblastoma.

Clinical genetics·2017

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

EBioMedicine·2016

Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability.

Applied health economics and health policy·2015

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Journal of medical genetics·2015

Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1).

Journal of musculoskeletal & neuronal interactions·2013

Ambient scribes as narrative technologies.

Lancet (London, England)·2026

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Lancet (London, England)·2026

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

Genetic Etiology and Neurodevelopmental Outcomes in Children With Craniosynostosis: A 15-Year Single-Center Retrospective Study.

The Journal of craniofacial surgery·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Cureus·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Related Experiment Videos

Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease

Related Concept Videos

The Global Leadership Mentoring Community: building capacity across seven global regions.

Patient understanding of genetic information influences reproductive decision making in retinoblastoma.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability.

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1).

Ambient scribes as narrative technologies.

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Genetic Etiology and Neurodevelopmental Outcomes in Children With Craniosynostosis: A 15-Year Single-Center Retrospective Study.

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

Related Experiment Videos

Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease

Related Concept Videos

Related Articles