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Nucleic Acids Research|April 5, 2018
LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiationKotaro Anan, Shinjiro Hino, Noriaki Shimizu, et al.Journal of Atherosclerosis and Thrombosis|April 28, 2021
Diagnosis and Management of Sitosterolemia 2021Hayato Tada, Akihiro Nomura, Masatsune Ogura, et al.Plos One|February 26, 2013
Calreticulin induces dilated cardiomyopathyDukgyu Lee, Tatsujiro Oka, Beth Hunter, et al.International Journal of Molecular Sciences|October 23, 2021
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical DataRoberto Giugliani, Ana Maria Martins, Torayuki Okuyama, et al.Case Reports in Nephrology and Dialysis|January 27, 2022
Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone TherapyTsugumi Fukunaga, Shingo Nakayama, Takuo Hirose, et al.Endocrine Journal|April 12, 2023
Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibodyAn Murai, Naoki Shinojima, Genki Ikuta, et al.Journal of Human Genetics|October 31, 2007
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiencyMitsugu Uematsu, Osamu Sakamoto, Noriko Sugawara, et al.Journal of Cardiology|May 20, 2026
Cardiomyocyte-specific Fbxl5 deficiency promotes iron overload-driven hypercontractility and late-onset pathological hypertrophy in miceRyoko Kusaba, Keishi Miyata, Tsuyoshi Kadomatsu, et al.Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.Pageof 23