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American Journal of Medical Genetics. Part A|May 7, 2015
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementationMark N Ziats, Mathew S Comeaux, Yaping Yang, et al.
Frontiers in Neuroscience|February 15, 2021
Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion SyndromeTehila Stern, Emeline H Crutcher, John M McCarthy, et al.
Journal of Inherited Metabolic Disease|May 17, 2024
Comparative analysis of gene and disease selection in genomic newborn screening studiesIsabel R Betzler, Maja Hempel, Ulrike Mütze, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical OutcomePhilipp Erhart, Daniel Körfer, Caspar Grond-Ginsbach, et al.
BMC Medical Genetics|May 1, 2015
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature reviewAyman W El-Hattab, Christian P Schaaf, Ping Fang, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delayJens Witsch, Przemyslaw Szafranski, Chun-An Chen, et al.
Nanoscale|November 18, 2017
Step-by-step build-up of covalent poly(ethylene oxide) nanogel filmsS Zahouani, L Hurman, M De Giorgi, et al.
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