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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Gigascience|June 23, 2015
The ocean sampling day consortiumAnna Kopf, Mesude Bicak, Renzo Kottmann, et al.
The New England Journal of Medicine|June 17, 2026
Cefazolin for Methicillin-Susceptible <i>Staphylococcus aureus</i> Bacteremia, Todd C Lee, Lauren A Barina, et al.
The European Physical Journal. C, Particles and Fields|August 5, 2017
Search for lepton-flavour-violating decays of the Higgs and <i>Z</i> bosons with the ATLAS detectorG Aad, B Abbott, J Abdallah, et al.
The European Physical Journal. C, Particles and Fields|March 11, 2017
Muon reconstruction performance of the ATLAS detector in proton-proton collision data at [Formula: see text]=13 TeV, G Aad, B Abbott, et al.
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