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Annals of the Rheumatic Diseases|June 5, 2012
Guidelines for the genetic diagnosis of hereditary recurrent feversY Shinar, L Obici, I Aksentijevich, et al.
Archives of Pathology & Laboratory Medicine|November 10, 2024
Pathologists Providing Direct Patient Care in Thoracic Transplant: Same Objective, Different ScopeMelanie C Bois, Marie-Christine Aubry, Anja C Roden, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Practical Radiation Oncology|February 13, 2022
Development and Internal Validation of a Recursive Partitioning Analysis-Based Model Predictive of Pain Flare Incidence After Spine Stereotactic Body Radiation TherapyRoman O Kowalchuk, Trey C Mullikin, William S Harmsen, et al.
Annals of the New York Academy of Sciences|October 15, 2024
The state of the bats in North AmericaAmanda M Adams, Luis A Trujillo, C J Campbell, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|March 28, 2024
Assessment of minimum target dose as a predictor of local failure after spine SBRTRoman O Kowalchuk, Trey C Mullikin, Grant M Spears, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.
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