Presymptomatic DNA-testing for Huntington disease in The Netherlands

Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.

Orphanet journal of rare diseases·2026

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

Human genetics·2025

'We Should View Him as an Individual': The Role of the Child's Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing.

Health care analysis : HCA : journal of health philosophy and policy·2021

Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making.

Psycho-oncology·2018

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Journal of genetic counseling·2017

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.

Human reproduction (Oxford, England)·2017

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Integrating transposable elements into blood gene regulatory networks reveals connectivity loss for schizophrenia genes.

The Journal of clinical investigation·2026

T-rex: standardized analysis of germline variants in whole-exome sequencing trios.

Scientific reports·2026

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

EBioMedicine·2026

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

Pharmacology & therapeutics·2026

[Autism - Phenotypic variability].

Medicina·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

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Presymptomatic DNA-testing for Huntington disease in The Netherlands

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Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

'We Should View Him as an Individual': The Role of the Child's Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing.

Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making.

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Integrating transposable elements into blood gene regulatory networks reveals connectivity loss for schizophrenia genes.

T-rex: standardized analysis of germline variants in whole-exome sequencing trios.

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

[Autism - Phenotypic variability].

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Related Experiment Videos

Presymptomatic DNA-testing for Huntington disease in The Netherlands

Related Concept Videos

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