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Stem Cell Reviews and Reports|December 4, 2019
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I StudyMarco Spada, Francesco Porta, Dorico Righi, et al.
Molecular Genetics and Metabolism|December 31, 2021
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley SyndromeSilvia Masnada, Catherine Sarret, Clara Eleonora Antonello, et al.
Rheumatology (Oxford, England)|November 8, 2013
The Italian MSUS Study Group recommendations for the format and content of the report and documentation in musculoskeletal ultrasonography in rheumatologyAnnamaria Iagnocco, Francesco Porta, Giovanna Cuomo, et al.
RMD Open|April 19, 2019
OMERACT agreement and reliability study of ultrasonographic elementary lesions in osteoarthritis of the footAlen Zabotti, Georgios Filippou, Marco Canzoni, et al.
Redox Biology|October 28, 2022
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasisViktor Kožich, Bernd C Schwahn, Jitka Sokolová, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
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