Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Combined Oxidative Phosphorylation Deficiency[original query] |
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Rapid Targeted Genomics in Critically Ill Newborns. Pediatrics 2017 9 140 (4): . van Diemen Cleo C, Kerstjens-Frederikse Wilhelmina S, Bergman Klasien A, de Koning Tom J, Sikkema-Raddatz Birgit, van der Velde Joeri K, Abbott Kristin M, Herkert Johanna C, Löhner Katharina, Rump Patrick, Meems-Veldhuis Martine T, Neerincx Pieter B T, Jongbloed Jan D H, van Ravenswaaij-Arts Conny M, Swertz Morris A, Sinke Richard J, van Langen Irene M, Wijmenga Cis |
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 |
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy. American journal of medical genetics. Part A 2023 4 . Angelova Petya, Velchev Vasil, Stoyanov Nikolay, Atemin Slavena, Todorov Tihomir, Tourtourikov Ivan, Mitev Vanyo, Todorova Albe |
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