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Rheumatology (Oxford, England)|March 29, 2024
Description of a novel splice site variant in UBA1 gene causing VEXAS syndromeDaniela Ospina Cardona, Ignasi Rodriguez-Pinto, Sonia Iosim, et al.
The Journal of Molecular Diagnostics : JMD|April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted SequencingNikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.
Kidney International|November 6, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-upSander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, et al.
Frontiers in Neuroscience|November 16, 2020
Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene NetworksS Vijayalingam, Uthayashanker R Ezekiel, Fenglian Xu, et al.
Plos One|June 23, 2020
Biomimetic reconstruction of the hematopoietic stem cell niche for in vitro amplification of human hematopoietic stem cellsL Marx-Blümel, C Marx, F Weise, et al.
Australian Journal of Biological Sciences|August 1, 1977
Isolation of toxic metabolites of Phomopsis leptostromiformis responsible for lupinosisC C Culvenor, A B Beck, M Clarke, et al.
Genes & Development|March 8, 2013
The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylationLourdes Serrano, Paloma Martínez-Redondo, Anna Marazuela-Duque, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
Ear and Hearing|August 27, 2002
A multi-center, double blind clinical trial comparing benefit from three commonly used hearing aid circuitsVernon D Larson, David W Williams, William G Henderson, et al.
Renal Failure|December 22, 2020
Clinical profile of a Polish cohort of children and young adults with cystinuriaMarcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, et al.
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