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American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.
Development (Cambridge, England)|May 23, 2020
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorderLynelle K Jones, Rachel Lam, Karen K McKee, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Genome Research|June 20, 2008
Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiationMarcel E Dinger, Paulo P Amaral, Tim R Mercer, et al.
Brain : a Journal of Neurology|May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlationEline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Brain : a Journal of Neurology|November 30, 2017
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophyCas Simons, David Dyment, Stephen J Bent, et al.
Nature Neuroscience|May 2, 2017
Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafishNeil I Bower, Katarzyna Koltowska, Cathy Pichol-Thievend, et al.
Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
Developmental Cell|April 25, 2019
The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic LineageSungmin Baek, Tae Gyu Oh, Genevieve Secker, et al.
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