Showing the latest 461 publications
Publications 211-220 of 461
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H., Bakker, D., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., et al.
Brain: A Journal of Neurology
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Hathazi, D., Griffin, H., Jennings, M., Giunta, M., Powell, C., Pearce, S., et al.
The EMBO journal
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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Swietlik, E., Prapa, M., Martin, J., Pandya, D., Auckland, K., Morrell, N., et al.
Genes
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Large genome-wide association study identifies three novel risk variants for restless legs syndrome
Didriksen, M., Nawaz, M., Dowsett, J., Bell, S., Erikstrup, C., Pedersen, O., et al.
Communications Biology
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
Rodger, C., Flex, E., Allison, R., Sanchis-Juan, A., Hasenahuer, M., Cecchetti, S., et al.
American Journal of Human Genetics
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Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
Chen, L., Yang, R., Kwan, T., Tang, C., Watt, S., Zhang, Y., et al.
Scientific Data
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Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Ulrich, A., Otero-Núñez, P., Wharton, J., Swietlik, E., Gräf, S., Morrell, N., et al.
Genes
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Shovlin, C., Simeoni, I., Downes, K., Frazer, Z., Megy, K., Bernabeu-Herrero, M., et al.
Blood
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Bertrand, R., Wang, J., Xiong, K., Thangavel, C., Qian, X., Ba-Abbad, R., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics