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Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research|April 8, 2017
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières SyndromeBen X Wang, Stephanie A Grover, Peter Kannu, et al.
Molecular Genetics and Metabolism Reports|November 22, 2017
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practiceGregory Costain, Aideen M Moore, Lauren Munroe, et al.
Molecular Biology of the Cell|June 17, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 MechanismsAmila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 MechanismsAmila Šemić, Kazette Yuen Yu Chan, Pricila Bernardi, et al.
Clinical Endocrinology|August 23, 2012
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex developmentJoyce Y Wu, Ivan N McGown, Lin Lin, et al.
American Journal of Medical Genetics. Part A|February 26, 2019
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid diseaseAshish R Deshwar, Malte Spielmann, Lisa Vi, et al.
Current Rheumatology Reports|December 17, 2013
The collagenopathies: review of clinical phenotypes and molecular correlationsRebekah Jobling, Rohan D'Souza, Naomi Baker, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 26, 2024
Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-IIIParker Wengryn, Felicity Fenrich, Karina da Costa Silveira, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
The Journal of Biological Chemistry|May 18, 2018
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.
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