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Yaping Yang

Showing results (341-350 of 410) with videos related to

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Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, 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.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Neurology. Genetics|June 14, 2019
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong Sun, Jie Song, Yanjun Jiang, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Nature Medicine|February 22, 2019
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
Pageof 41

Showing results (341-350 of 410) with videos related to

Sort By:
Pageof 41
Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, 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.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Neurology. Genetics|June 14, 2019
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong Sun, Jie Song, Yanjun Jiang, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Nature Medicine|February 22, 2019
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
Pageof 41