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CEN Case Reports|November 16, 2021
New-onset pediatric nephrotic syndrome following Pfizer-BioNTech SARS-CoV-2 vaccination: a case report and literature reviewEriko Nakazawa, Toru Uchimura, Yuji Hirai, et al.
European Journal of Human Genetics : EJHG|February 20, 2025
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complicationsNoriko Miyake, Kentaro Shiga, Yuya Hasegawa, et al.
The Journal of Clinical Endocrinology and Metabolism|September 11, 2019
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature ReviewChiho Sugisawa, Tetsuya Takamizawa, Kiyomi Abe, et al.
Nature Genetics|May 17, 2016
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7Satoshi Narumi, Naoko Amano, Tomohiro Ishii, et al.
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