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Showing results (181-190 of 208) with videos related to

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Molecular Genetics and Metabolism|February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiencyYael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic associationHana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Genetics and Molecular Research : GMR|March 25, 2017
SNP detection using RNA-sequences of candidate genes associated with puberty in cattleM M Dias, A Cánovas, C Mantilla-Rojas, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Pageof 21

Showing results (181-190 of 208) with videos related to

Sort By:
Pageof 21
Molecular Genetics and Metabolism|February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiencyYael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic associationHana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Genetics and Molecular Research : GMR|March 25, 2017
SNP detection using RNA-sequences of candidate genes associated with puberty in cattleM M Dias, A Cánovas, C Mantilla-Rojas, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Pageof 21