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Christine M Eng

Showing results (41-50 of 100) with videos related to

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Molecular Genetics and Metabolism|December 17, 2008
Lysosomal Disease Network's "WORLD Symposium 2009". IntroductionChester B Whitley, John A Barranger, Christine M Eng, et al.
Neurology. Genetics|July 27, 2018
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, et al.
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndromeJoseph Muenzer, Michael Beck, Christine M Eng, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2006
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Joseph Muenzer, James E Wraith, Michael Beck, et al.
Pageof 10

Showing results (41-50 of 100) with videos related to

Sort By:
Pageof 10
Molecular Genetics and Metabolism|December 17, 2008
Lysosomal Disease Network's "WORLD Symposium 2009". IntroductionChester B Whitley, John A Barranger, Christine M Eng, et al.
Neurology. Genetics|July 27, 2018
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, et al.
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndromeJoseph Muenzer, Michael Beck, Christine M Eng, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2006
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Joseph Muenzer, James E Wraith, Michael Beck, et al.
Pageof 10