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Therapeutic Advances in Rare Disease|May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case seriesSilvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Novel therapeutics in nystagmus: what has the genetics taught us so far?Jay E Self, Helena LeeTherapeutic Advances in Rare Disease|May 14, 2023
Wolfram syndrome: new pathophysiological insights and therapeutic strategiesRatnakar Mishra, Benson S Chen, Prachi Richa, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Animal and cellular models of microphthalmiaPhilippa Harding, Dulce Lima Cunha, Mariya MoosajeeTherapeutic Advances in Rare Disease|May 17, 2023
A novel case of homozygous PAX1 mutation associated with hypoparathyroidismBenjamin L Hamel, Seema Kumar, Leah Heidenreich, et al.Therapeutic Advances in Rare Disease|May 17, 2023
Emerging roles and opportunities for rare disease patient advocacy groupsAmy M Patterson, Megan O'Boyle, Grace E VanNoy, et al.Therapeutic Advances in Rare Disease|April 28, 2025
Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic cluesLaura Battaglia, Corrado Ini', Manuela Lo Bianco, et al.Therapeutic Advances in Rare Disease|February 24, 2025
Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathiesGabrielle Conecker, JayEtta Hecker, Michael F HammerTherapeutic Advances in Rare Disease|February 14, 2025
Paving the way toward treatment solutions for CTNNB1 syndrome: a patient organization perspectiveŠpela Miroševič, Shivang Khandelwal, Emily Amerson, et al.Therapeutic Advances in Rare Disease|January 20, 2025
Behcet's disease in a tertiary eye hospital in PakistanTabish Ali Shalwani, Alishan Khowaja, Narmeen PunjwaniPageof 13