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BMC Health Services Research|December 13, 2018
Standardized outcome measures for pregnancy and childbirth, an ICHOM proposalMalini Anand Nijagal, Stephanie Wissig, Caleb Stowell, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|June 11, 2014
7 Å resolution in protein two-dimensional-crystal X-ray diffraction at Linac Coherent Light SourceBill Pedrini, Ching-Ju Tsai, Guido Capitani, et al.
Iucrj|July 31, 2014
Femtosecond X-ray diffraction from two-dimensional protein crystalsMatthias Frank, David B Carlson, Mark S Hunter, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Transfusion|February 9, 2020
Variations in hemoglobin measurement and eligibility criteria across blood donation services are associated with differing low-hemoglobin deferral rates: a BEST Collaborative studySaurabh Zalpuri, Bas Romeijn, Elias Allara, et al.
Brain : a Journal of Neurology|January 13, 2022
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genesLine Skotte, João Fadista, Jonas Bybjerg-Grauholm, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
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