Related Experiment Videos
Carrier screening for cystic fibrosis and other autosomal recessive diseases
American Journal of Human Genetics
|August 1, 1990
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Monitoring of risk factor/outcome combinations: a valuable supplement to birth defect monitoring.
The International journal of risk & safety in medicine·2013
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Journal of inherited metabolic disease·2008
[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
Nederlands tijdschrift voor geneeskunde·2006
De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.
American journal of human genetics·2026
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.
American journal of human genetics·2026
Loss of the human BRIP1 C terminus does not cause Fanconi anemia.
American journal of human genetics·2026
A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.
American journal of human genetics·2026
Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.
American journal of human genetics·2026
Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.
American journal of human genetics·2026
Combined linkage mapping and association analysis reveal the genetic control of starch content in maize kernel.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026
The complete mitochondrial genome of Neomyia gavisa (Walker, 1859) (Diptera: Muscidae).
Mitochondrial DNA. Part B, Resources·2026
Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study.
International journal of reproductive biomedicine·2026