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American Journal of Human Genetics|May 26, 2015
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystoniaMichael Zech, Daniel D Lam, Ludmila Francescatto, et al.HGG Advances|April 3, 2024
The severity of MUSK pathogenic variants is predicted by the protein domain they disruptBenjamin T Cocanougher, Samuel W Liu, Ludmila Francescatto, et al.Proceedings of the National Academy of Sciences of the United States of America|December 5, 2014
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiencyRavikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, et al.Gastroenterology|January 11, 2015
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionElena Bonora, Francesca Bianco, Lina Cordeddu, et al.Human Molecular Genetics|July 19, 2015
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorHyun Hor, Ludmila Francescatto, Luca Bartesaghi, et al.American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.Pageof 2