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BMJ Open|April 23, 2021
Integrating neuroimaging biomarkers into the multicentre, high-dose erythropoietin for asphyxia and encephalopathy (HEAL) trial: rationale, protocol and harmonisationJessica L Wisnowski, Stefan Bluml, Ashok Panigrahy, et al.Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.Pageof 18