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Annals of Neurology|May 31, 2017
The genetic landscape of familial congenital hydrocephalusRanad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
JCI Insight|May 23, 2022
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndromeMary E McQuaid, Kashif Ahmed, Stephanie Tran, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 11, 2015
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophiesNisha Patel, Mohammed A Aldahmesh, Hisham Alkuraya, et al.
Brain : a Journal of Neurology|October 26, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterationsJorge Diaz, Xavier Gérard, Michel-Boris Emerit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Molecular autopsy in maternal-fetal medicineHanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
American Journal of Human Genetics|April 18, 2017
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic ProteinsEmma A Hall, Michael S Nahorski, Lyndsay M Murray, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
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