GM1‐Gangliosidosis Type III Associated Parkinsonism

por Kaiyrzhanov, Rauan, Guliyeva, Ulviyya, Gulieva, Sughra, Salayev, Kamran, Mursalova, Aytan, Allahyarova, Parvin, Ferla, Matteo P., Houlden, Henry
Publicado 2021

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

por Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.
Publicado 2020

Biallelic loss of EMC10 leads to mild to severe intellectual disability

por Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, van Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza
Publicado 2022