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Therapeutic Advances in Rare Disease|November 13, 2024
An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescentSarah Grace Engel, Ali Said Al-Beshri, Amitha Ananth, et al.Therapeutic Advances in Rare Disease|November 13, 2024
A patient organization perspective: charting the course to a cure for SCN2A-related disordersLeah F Schust, Jennifer Burke, Christina SanInocencio, et al.Therapeutic Advances in Rare Disease|November 1, 2024
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblingsJohan H M Frijns, Roos M G S Geerders, Esther Scholing, et al.Therapeutic Advances in Rare Disease|December 2, 2024
The MED13L Foundation strategic research plan: a roadmap to the futureRachel Heilmann, Anna Pfalzer, Terry Jo Bichell, et al.Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.Therapeutic Advances in Rare Disease|August 2, 2024
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organizationTanya L Brown, Matthew N Bainbridge, Grit Zahn, et al.Therapeutic Advances in Rare Disease|September 4, 2024
Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case reportChristine Brennan, Abigail Matthews, Sherri TennantTherapeutic Advances in Rare Disease|June 20, 2024
STXBP1: fast-forward to a brighter future - a patient organization perspectiveJames R Goss, Benjamin Prosser, Ingo Helbig, et al.Therapeutic Advances in Rare Disease|April 29, 2024
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disabilityAnnelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, et al.Therapeutic Advances in Rare Disease|June 3, 2024
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatmentKerry Grens, Kit M Church, Eric Diehl, et al.Pageof 13