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BMC Nephrology|September 17, 2015
A protocol for the identification and validation of novel genetic causes of kidney diseaseAndrew Mallett, Chirag Patel, Barbara Maier, et al.
Diagnostic and Prognostic Research|August 3, 2022
Development and validation of prognostic models for anal cancer outcomes using distributed learning: protocol for the international multi-centre atomCAT2 studyStelios Theophanous, Per-Ivar Lønne, Ananya Choudhury, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Frontiers in Genetics|July 11, 2022
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Cell Metabolism|September 25, 2018
Integrated Pharmacodynamic Analysis Identifies Two Metabolic Adaption Pathways to Metformin in Breast CancerSimon R Lord, Wei-Chen Cheng, Dan Liu, et al.
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