Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 4 (of 4 Records)

Query Trace: Combined Oxidative Phosphorylation Deficiency[original query]
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
TARS2 c.470 C?>?G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Orphanet journal of rare diseases 2024 10 19 (1): 376.
Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling L
TOP