Related Experiment Videos
In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.
American journal of medical genetics. Part A·2025
Expanding CEP290 mutational spectrum in ciliopathies.
American journal of medical genetics. Part A·2009
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Association of a Child's Rare Disease Neurofibromatosis 1 with Parental Income and Employment Trajectories Following the Child's Birth.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Why atypical findings matter: Follow up testing finds diagnostic results related to cfDNA screen.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
A meta-analysis of periodic and aperiodic electrophysiological features in Parkinson's disease.
Brain communications·2026