Associated Papers
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
41444612 (PubMed )
Supplement: 12967_2025_7586_MOESM8_ESM.xlsx › Data
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S5
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report.
Al-Awadi SA et al.
Annales De Genetique, 1986
Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism.
Lam-Chung CE et al.
Aace Clinical Case Reports, 0
Select a paper to view details