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Biorxiv : the Preprint Server for Biology|February 13, 2023
Structure primed embedding on the transcription factor manifold enables transparent model architectures for gene regulatory network and latent activity inferenceAndreas Tjärnberg, Maggie Beheler-Amass, Christopher A Jackson, et al.
Human Molecular Genetics|January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficienciesCinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, et al.
Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.
Molecular Biology Reports|April 23, 2020
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseasesRahma Felhi, Majida Charif, Lamia Sfaihi, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Journal of Diabetes and Its Complications|March 1, 2017
Association between osteocalcin gamma-carboxylation and insulin resistance in overweight and obese postmenopausal womenJessica Bonneau, Guylaine Ferland, Antony D Karelis, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 1, 1992
[The Harlequin Baby syndrome. A new case]V Plocoste, D Bonneau, M Deshayes, et al.
Gynecologic Oncology|October 16, 2013
Lymphatic and nerve distribution throughout the parametriumC Bonneau, A Cortez, R Lis, et al.
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