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Prenatal Diagnosis|January 17, 2026
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the LiteratureNathalie Vanden Eynde, Ileen Slegers, Elise Vantroys, et al.Biomolecules|April 30, 2021
Overcoming the Challenges of High Quality RNA Extraction from Core Needle BiopsyHanne Locy, Rohann J M Correa, Dorien Autaers, et al.Neuro-Oncology|October 15, 2024
Intracranial administration of anti-PD-1 and anti-CTLA-4 immune checkpoint-blocking monoclonal antibodies in patients with recurrent high-grade gliomaJohnny Duerinck, Louise Lescrauwaet, Iris Dirven, et al.Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in TUBB2AStefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2BStefanie Brock, Annie Laquerriere, Florent Marguet, et al.American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.Pageof 2