Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects von Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.

Volltext

Renal involvment in choildren with spina bifida von Safdar, Usamah Y., Jamjoom, Roaa, Anshasi, Wasim, Kari, Jamilah A.

Volltext