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15 papers14 with full text Questions on this topic

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SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland et al. · Brain · 2018 · Case report
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Coordination of cortical and thalamic activity during non-REM sleep in humans
Rachel A. Mak-McCully, Matthieu Rolland, Anna Sargsyan et al. · Nature Communications · 2017 · Case report
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Gut inflammation and dysbiosis in human motor neuron disease
Julie Rowin, Yinglin Xia, Barbara Jung et al. · Physiological Reports · 2017 · Case report
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Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer et al. · Nature Communications · 2016 · Case report
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Antibiotic resistance management
A. F. Read, R. J. Woods · Evolution, Medicine, and Public Health · 2014 · Case report
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Fatal Monkeypox in Wild-Living Sooty Mangabey, Côte d’Ivoire, 2012
Aleksandar Radonić, Sonja Metzger, Piotr Wojtek Dabrowski et al. · Emerging Infectious Diseases · 2014 · Case report
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Ceftriaxone-Resistant Neisseria gonorrhoeae , Japan
Makoto Ohnishi, Takeshi Saika, Shinji Hoshina et al. · Emerging Infectious Diseases · 2011 · Case report
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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués et al. · Human Mutation · 2010 · Case report
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Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032
Jill C Rubinstein, Mario Sznol, Anna C Pavlick et al. · Journal of Translational Medicine · 2010 · Case report
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Human Anaplasmosis and Anaplasma ovis Variant
Dimosthenis Chochlakis, Ioannis Ioannou, Yannis Tselentis et al. · Emerging Infectious Diseases · 2010 · Case report
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
Brian P Kelley, Fransiska Malfait, Luisa Bonafe et al. · Journal of Bone and Mineral Research · 2010 · Case report
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Short-Wavelength Light Sensitivity of Circadian, Pupillary, and Visual Awareness in Humans Lacking an Outer Retina
Farhan H. Zaidi, Joseph T. Hull, Stuart N. Peirson et al. · Current Biology · 2007 · Case report
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The role of the pre-supplementary motor area in the control of action
Parashkev Nachev, Henrietta Wydell, Kevin O’Neill et al. · NeuroImage · 2007 · Case report
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Threat to Cefixime Treatment for Gonorrhea
Shigeaki Yokoi, Takashi Deguchi, Tomomi Ozawa et al. · Emerging Infectious Diseases · 2007 · Case report
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Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy et al. · PLoS Genetics · 2006 · Case report
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