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Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|May 14, 2024
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disordersAsem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 26, 2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motilityAndrew Robson, Svetlana Z Makova, Syndi Barish, et al.
Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Medrxiv : the Preprint Server for Health Sciences|May 10, 2023
Quantitative prediction of right ventricular and size and function from the electrocardiogramSon Q Duong, Akhil Vaid, Ha My Thi Vy, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analogAndreas Hahn, Jessica Lauriol, Josef Thul, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)Kathryn A Phillips, Julia R Trosman, Michael P Douglas, et al.
Human Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.
American Journal of Human Genetics|April 25, 2000
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutationsG A Diaz, B D Gelb, N Risch, et al.
Patient Education and Counseling|February 28, 2021
Hope versus reality: Parent expectations of genomic testingKatherine E Donohue, Siobhan M Dolan, Dana Watnick, et al.
HGG Advances|April 22, 2021
"Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test resultsDana Watnick, Jacqueline A Odgis, Sabrina A Suckiel, et al.
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