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Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell‐Silver Syndrome in Infancy
Thomas‐Wilson, Amanda, Ganapathi, Mythily, Harkavy, Nina, Schwanke, Corbin, Giordano, Jessica, Elias, Abdallah F., Wapner, Ronald J., Jobanputra, Vaidehi
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Published in Prenatal diagnosis (01.07.2025)
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Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
Burnichon, Nelly, Mazzella, Jean-Michaël, Drui, Delphine, Amar, Laurence, Bertherat, Jérôme, Coupier, Isabelle, Delemer, Brigitte, Guilhem, Isabelle, Herman, Philippe, Kerlan, Véronique, Tabarin, Antoine, Wion, Nelly, Lahlou-Laforet, Khadija, Favier, Judith, Gimenez-Roqueplo, Anne-Paule
Published in Journal of medical genetics (01.02.2017)
Published in Journal of medical genetics (01.02.2017)
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Mitochondrial tRNA(Leu(UUR)) gene mutation diabetes mellitus in Chinese
Xiang, K, Wang, Y, Wu, S, Lu, H, Zheng, T, Sun, D, Weng, Q, Jia, W, Shen, W, Pu, L, He, J
Published in Chinese medical journal (01.05.1997)
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Published in Chinese medical journal (01.05.1997)
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