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Arthur L Beaudet

Showing results (141-150 of 190) with videos related to

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Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Pageof 19

Showing results (141-150 of 190) with videos related to

Sort By:
Pageof 19
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Pageof 19