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The New England Journal of Medicine|October 15, 2010
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaKiran Musunuru, James P Pirruccello, Ron Do, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Journal of General Internal Medicine|April 17, 2026
Effect of Emergency Department-Initiated Video-Enhanced Advance Care Planning on Documentation and Goal-Concordant Care: A Randomized Clinical TrialAngelo E Volandes, Hacho Bohossian, Yuchiao Chang, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Nature Communications|September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 10, 2021
European guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology - Part IH Rashid, A Lamberts, L Borradori, et al.
The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
JAMA Surgery|August 10, 2022
Effect of a Decision Aid on Agreement Between Patient Preferences and Repair Type for Abdominal Aortic Aneurysm: A Randomized Clinical TrialMark A Eid, Michael J Barry, Gale L Tang, et al.
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