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Current Opinion in Pediatrics|November 9, 2018
Facial recognition software in clinical dysmorphologyAnna C E Hurst
Journal of Personalized Medicine|March 21, 2020
Dysmorphology in the Era of Genomic DiagnosisAnna C E Hurst, Nathaniel H Robin
Hormone Research in Paediatrics|January 17, 2023
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case SeriesCharles Gagnon, Anna C E Hurst, Ambika P Ashraf
Journal of Clinical Lipidology|April 26, 2017
Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomyAmbika P Ashraf, Anna C E Hurst, Abhimanyu Garg
American Journal of Medical Genetics. Part A|September 26, 2023
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases programDorothea Siebold, Jessica Denton, Anna C E Hurst, et al.
American Journal of Medical Genetics. Part A|February 13, 2017
Foramen magnum compression in Coffin-Lowry syndrome: A case reportJariya Upadia, Jerry Oakes, Austin Hamm, et al.
Frontiers in Endocrinology|October 20, 2022
Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner SyndromeKatherine Buchanan, Erin Greenup, Anna C E Hurst, et al.
Prenatal Diagnosis|February 15, 2025
Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient ExperiencesAudrey McBride, Ashley Cannon, Siddharth Prakash, et al.
Frontiers in Public Health|January 1, 2024
A cost-utility analysis of BRCA1 and BRCA2 testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settingsPongtawat Lertwilaiwittaya, Narisa Tantai, Satanun Maneeon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2025
Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Glenn E Palomaki, Wendy E Smith, Komal Bajaj, et al.
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