Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

por Maroofian, Reza, Schuele, Isabel, Najafi, Maryam, Bakey, Zeineb, Rad, Abolfazl, Antony, Dinu, Habibi, Haleh, Schmidts, Miriam
Publicado 2018

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

por BAZAZZADEGAN, Niloofar, VAZEHAN, Raheleh, FADAEE, Mahsa, FATTAHI, Zohreh, ABOLHASSANI, Ayda, PARSIMEHR, Elham, KALHOR, Zahra, FARAJI ZONOOZ, Mehrshid, AHANGARI, Fatemeh, DEHDAHSI, Shima, SAMIEE, Farshide, JAMALI, Payman, HABIBI, Haleh, NOURIZADEH, Younes, MAHDAVI, Shokouh, BEHESHTIAN, Maryam, KARIMINEJAD, Ariana, SMITH, Richard JH, NAJMABADI, Hossein
Publicado 2019