Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

par Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong
Publié 2012-01-01

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

par Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong
Publié 2015-01-01

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

par Annie Ting Gee Chiu MBBS(HK), MRCPCH, Sophelia Hoi Shan Chan MBBS(HK), FHKAM(Paed), FHKCPaed, Shun Ping Wu MBBS, (HK), FHKAM(Paed), FHKCPaed, Shun Hin Ting MBBS, (HK), FHKCPath, FHKAM(Path), Brian Hon Yin Chung MBBS, (Hons), FHKAM(Paed), FHKCPaed, Angel On Kei Chan MD, FRCPA, FHKCPath, FHKAM(Path), Virginia Chun Nei Wong MBBS(HK), FHKAM(Paed), FHKCPaed
Publié 2018-04-01