Related Experiment Videos
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
W W Grody1, G R Cutting, K W Klinger
1Divisions of Medical Genetics and Molecular Pathology, UCLA School of Medicine, Los Angeles, California, USA.
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.
Human reproduction (Oxford, England)·2022
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022
The genetics and genomics of cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2019
Decreased mRNA and protein stability of W1282X limits response to modulator therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2019
ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
Genetics in medicine : official journal of the American College of Medical Genetics·2013
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Molecular genetics and metabolism·2012
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Rapid Genome Sequencing Identifies Treatable Conditions in Non-Intensive Care Unit Hospitalized Children.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Retrospective Study of Foramen Magnum Development in Patients with Achondroplasia Starting Vosoritide Before Age Three.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Familial Risk Stratification Across Cancer Syndromes Using Fam3PRO.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.
Italian journal of pediatrics·2026
The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.
Journal of biomedical science·2026