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Nature Medicine|December 19, 2018
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectArtur V Cideciyan, Samuel G Jacobson, Arlene V Drack, et al.
Nucleic Acids Research|April 29, 2015
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancerJeremy Chien, Hugues Sicotte, Jian-Bing Fan, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
Developmental Cell|December 13, 2023
HOPX-associated molecular programs control cardiomyocyte cell states underpinning cardiac structure and functionClayton E Friedman, Seth W Cheetham, Sumedha Negi, et al.
Journal of the Endocrine Society|July 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UKFederica Buonocore, Avinaash Maharaj, Younus Qamar, et al.
The Laryngoscope|October 6, 2018
International neural monitoring study group guideline 2018 part I: Staging bilateral thyroid surgery with monitoring loss of signalRick Schneider, Gregory W Randolph, Gianlorenzo Dionigi, et al.
Nature Medicine|April 5, 2022
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trialStephen R Russell, Arlene V Drack, Artur V Cideciyan, et al.
Acta Neuropathologica Communications|June 2, 2016
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic studyDonato Iacovazzo, Richard Caswell, Benjamin Bunce, et al.
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