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American Journal of Human Genetics|August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi DysfunctionMiroslav P Milev, Megan E Grout, Djenann Saint-Dic, et al.
Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsYong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
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