Expanding the molecular and clinical phenotypes of FUT8‐CDG
Ng, Bobby G., Dastsooz, Hassan, Silawi, Mohammad, Habibzadeh, Parham, Jahan, Shima B., Fard, Mohammad A. F., Halliday, Benjamin J., Raymond, Kimiyo, Ruzhnikov, Maura R. Z., Tabatabaei, Zahra, Taghipour‐Sheshdeh, Afsaneh, Brimble, Elise, Robertson, Stephen P., Faghihi, Mohammad A., Freeze, Hudson H.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
Get full text
Journal Article
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature
Ain, Noor U., Muhammad, Niaz, Dianatpour, Mehdi, Baroncelli, Marta, Iqbal, Muddassar, Fard, Mohammad A. F., Bukhari, Ihtisham, Ahmed, Sufian, Hajipour, Massoumeh, Tabatabaie, Zahra, Foroutan, Hamidreza, Nilsson, Ola, Faghihi, Mohammad A., Makitie, Outi, Naz, Sadaf
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
Get full text
Journal Article