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The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.Nature Genetics|December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.Pageof 2