Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: QRSL1[original query] |
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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. European journal of human genetics : EJHG 2018 2 26 (4): 537-551. Kamps Rick, Szklarczyk Radek, Theunissen Tom E, Hellebrekers Debby M E I, Sallevelt Suzanne C E H, Boesten Iris B, de Koning Bart, van den Bosch Bianca J, Salomons Gajja S, Simas-Mendes Marisa, Verdijk Rob, Schoonderwoerd Kees, de Coo Irenaeus F M, Vanoevelen Jo M, Smeets Hubert J |
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. International journal of cardiology 2019 1 279 115-121. Imai-Okazaki Atsuko, Kishita Yoshihito, Kohda Masakazu, Mizuno Yosuke, Fushimi Takuya, Matsunaga Ayako, Yatsuka Yukiko, Hirata Tomoko, Harashima Hiroko, Takeda Atsuhito, Nakaya Akihiro, Sakata Yasushi, Kogaki Shigetoyo, Ohtake Akira, Murayama Kei, Okazaki Yasus |
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. European journal of endocrinology 2022 7 187 (3): K27-K32. Dursun Fatma, Genc Hulya Maras, Mine Y?lmaz Ay?e, Tas Ibrahim, Eser Metin, Pehlivanoglu Cemile, Yilmaz Betul Karademir, Guran Tul |
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes. European urology 2023 5 . Louise C Pyle, Jung Kim, Jonathan Bradfield, Scott M Damrauer, Kurt D'Andrea, Lawrence H Einhorn, Rama Godse, Hakon Hakonarson, Peter A Kanetsky, Rachel L Kember, Linda A Jacobs, Kara N Maxwell, Daniel J Rader, David J Vaughn, Benita Weathers, Bradley Wubbenhorst, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Mark H Greene, Katherine L Nathanson, Douglas R Stewa |
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