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Optometry and Vision Science : Official Publication of the American Academy of Optometry|October 31, 2024
Baseline factors associated with myopia progression and axial elongation over 30 months in children 5 to 12 years of ageKatherine K Weise, Michael X Repka, Yufeng Zhu, et al.
JAMA|December 10, 2024
Early Restrictive vs Liberal Oxygen for Trauma Patients: The TRAUMOX2 Randomized Clinical TrialTobias Arleth, Josefine Baekgaard, Volkert Siersma, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 13, 2013
Graft-versus-host disease and graft-versus-tumor effects after allogeneic hematopoietic cell transplantationRainer Storb, Boglarka Gyurkocza, Barry E Storer, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.
Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Wellcome Open Research|September 16, 2024
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritizationSara M Willems, Natasha H J Ng, Juan Fernandez, et al.
Nature Genetics|June 5, 2019
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesityValérie Turcot, Yingchang Lu, Heather M Highland, et al.
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