Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 18, 2014
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiencyRuben Esse, Apolline Imbard, Cristina Florindo, et al.
Journal of Medical Genetics|December 16, 2015
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationMariska Davids, Megan S Kane, Miao He, et al.
American Journal of Human Genetics|January 26, 2016
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationMegan S Kane, Mariska Davids, Christopher Adams, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|November 14, 2018
Glycomics in rare diseases: from diagnosis tomechanismMariska Davids, Megan S Kane, Lynne A Wolfe, et al.
Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.
American Journal of Medical Genetics. Part A|October 21, 2017
Defective ciliogenesis in INPP5E-related Joubert syndromeIsabel Hardee, Ariane Soldatos, Mariska Davids, et al.
American Journal of Medical Genetics. Part A|November 15, 2017
Cover Image, Volume 173A, Number 12, December 2017Isabel Hardee, Ariane Soldatos, Mariska Davids, et al.
Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.
Pageof 3