Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Por Ullah, Rahim, Ansar, Muhammad, Durrani, Zaka Ullah, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Muhammad, Dost, Ali, Mahboob, Zia, Muhammad, Ayub, Muhammad, Khan, Suliman, Smith, Josh D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Leal, Suzanne M., Ahmad, Wasim
Publicado no Int J Dermatol (2015)

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Por Ng, Sarah B., Bigham, Abigail W., Buckingham, Kati J., Hannibal, Mark C., McMillin, Margaret, Gildersleeve, Heidi, Beck, Anita E., Tabor, Holly K., Cooper, Greg M., Mefford, Heather C., Lee, Choli, Turner, Emily H., Smith, Josh D., Rieder, Mark J., Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Publicado em 2010