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Nature Genetics|July 4, 2012
Structural diversity and African origin of the 17q21.31 inversion polymorphismKaryn Meltz Steinberg, Francesca Antonacci, Peter H Sudmant, et al.Journal of Neurotrauma|January 1, 2014
Testosterone dose dependently prevents bone and muscle loss in rodents after spinal cord injuryJoshua F Yarrow, Christine F Conover, Luke A Beggs, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.Plos One|May 31, 2014
The macroecology of airborne pollen in Australian and New Zealand urban areasSimon G Haberle, David M J S Bowman, Rewi M Newnham, et al.BMJ Open|January 6, 2025
FAecal micRobiota transplantation in primary sclerosinG chOlangitis (FARGO): study protocol for a randomised, multicentre, phase IIa, placebo-controlled trialSarah Al-Shakhshir, Mohammed Nabil Quraishi, Benjamin Mullish, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.Journal of Thrombosis and Haemostasis : JTH|October 30, 2020
A multicenter laboratory assessment of a new automated chemiluminescent assay for ADAMTS13 activityEmmanuel J Favaloro, Soma Mohammed, Kent Chapman, et al.Annals of Neurology|January 13, 2018
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, et al.Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.Proceedings of the National Academy of Sciences of the United States of America|June 6, 2012
Specific inactivation of two immunomodulatory SIGLEC genes during human evolutionXiaoxia Wang, Nivedita Mitra, Ismael Secundino, et al.Pageof 148