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Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, et al.European Journal of Human Genetics : EJHG|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsLigia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.Neuro-Oncology Advances|March 14, 2023
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous systemMirjam Renovanz, Sylvia C Kurz, Johannes Rieger, et al.Nature Structural & Molecular Biology|December 12, 2024
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1Pilar Álvarez Jerez, Peter Wild Crea, Daniel M Ramos, et al.Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.Science Advances|January 14, 2026
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.Pageof 67