Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong

por Chan, Sophelia H. S., Lo, Ivan F. M., Cherk, Sharon W. W., Cheng, Wai Wai, Fung, Eva L. W., Yeung, Wai Lan, Ngan, Mary, Lee, Wing Cheong, Kwong, Ling, Wong, Suet Na, Ma, Che Kwan, Tai, Shuk Mui, Ng, Grace S. F., Wu, Shun Ping, Wong, Virginia C. N.
Publicado 2015

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

por Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève
Publicado 2019