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Eva Morava

Showing results (331-340 of 355) with videos related to

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Journal of Inherited Metabolic Disease|August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Human Genetics|March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome dataAlejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
American Journal of Human Genetics|July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaEmma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
American Journal of Human Genetics|August 9, 2020
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Pageof 36

Showing results (331-340 of 355) with videos related to

Sort By:
Pageof 36
Journal of Inherited Metabolic Disease|August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Human Genetics|March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome dataAlejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
American Journal of Human Genetics|July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaEmma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
American Journal of Human Genetics|August 9, 2020
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Pageof 36