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Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|October 4, 2025
Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on bone mineral densityMaarten J Beekman, Lara Terra, Anniek Stuursma, et al.
American Journal of Obstetrics and Gynecology|January 25, 2021
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort studyLieske H Schrijver, Antonis C Antoniou, Håkan Olsson, et al.
Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
JACC. Cardiooncology|January 13, 2025
Coronary Artery Calcium Scores After Prophylactic Premenopausal Bilateral Salpingo-OophorectomyMaarten J Beekman, Lara Terra, Bernadette A M Heemskerk-Gerritsen, et al.
European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.
JAMA Oncology|October 7, 2021
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition SyndromesCatherine Goudie, Leora Witkowski, Noelle Cullinan, et al.
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