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Retraining and Control Therapy (ReACT)- Adults dlvr.it/TCNtWq

The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy dlvr.it/TCPMpJ

Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases dlvr.it/TCRDb6

Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis dlvr.it/TCWgG8

On our way to Taiwan for our first training workshop in Asia on interpreting genetic tests with precision! 🧬 After holding many workshops across North and South America and Europe, our team is excited to connect with the Taiwan Neurology Society and meet many new faces.

ONO-2017 Study Japanese Patients With Primary Generalized Tonic Clonic Seizures. dlvr.it/TCZvWV

Health and economic impacts of Lassa vaccination campaigns in West Africa dlvr.it/TCc2bs

Correction to "Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model" dlvr.it/TCc2d4

After nearly 20 hours of travel, teaching at the workshop, a brief tour, now heading back. Exhausting but worth it! Grateful for the chance to share knowledge on advanced genetic variant classification with such a dedicated group of neurologists. #genetics #VUS #Bioinformatics

Fetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study dlvr.it/TCgjRZ

Epigenetic therapy potentiates transposable element transcription to create tumor-enriched antigens in glioblastoma cells dlvr.it/TCl92K

Sleep Disruption Pattern - Epilepsy Monitoring Unit dlvr.it/TClxJ5

The Double-Edged Sword of Extremely High Prices for Gene Therapies in Sickle Cell Disease dlvr.it/TCmTNc

PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells dlvr.it/TCnLnP

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy dlvr.it/TCnLnz

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease dlvr.it/TCqQNv

Immune system adaptation during gender-affirming testosterone treatment dlvr.it/TCr9vg

Deciphering the impact of genomic variation on function dlvr.it/TCrMxn

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes dlvr.it/TCs5WJ

In vivo dendritic cell reprogramming for cancer immunotherapy dlvr.it/TCtHSf