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Arthur L Beaudet

Showing results (101-110 of 190) with videos related to

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American Journal of Medical Genetics. Part A|February 14, 2006
Angelman syndrome 2005: updated consensus for diagnostic criteriaCharles A Williams, Arthur L Beaudet, Jill Clayton-Smith, et al.
The Journal of Pediatrics|August 5, 2006
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesityJennifer Miller, John Kranzler, Yijun Liu, et al.
Prenatal Diagnosis|April 4, 2012
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin Bi, Amy Breman, Chad A Shaw, et al.
Human Mutation|August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridizationDaniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 4, 2008
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primatesNicola Brunetti-Pierri, Gary E Stapleton, Mark Law, et al.
Global Pediatric Health|March 1, 2019
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot StudyRobin P Goin-Kochel, Fernando Scaglia, Christian P Schaaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Nature Genetics|October 1, 2013
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismChristian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, et al.
Human Molecular Genetics|August 14, 2003
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletionsWei Yu, Blake C Ballif, Catherine D Kashork, et al.
Pageof 19

Showing results (101-110 of 190) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|February 14, 2006
Angelman syndrome 2005: updated consensus for diagnostic criteriaCharles A Williams, Arthur L Beaudet, Jill Clayton-Smith, et al.
The Journal of Pediatrics|August 5, 2006
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesityJennifer Miller, John Kranzler, Yijun Liu, et al.
Prenatal Diagnosis|April 4, 2012
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin Bi, Amy Breman, Chad A Shaw, et al.
Human Mutation|August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridizationDaniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Weimin Bi, Caroline Borgan, Amber N Pursley, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 4, 2008
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primatesNicola Brunetti-Pierri, Gary E Stapleton, Mark Law, et al.
Global Pediatric Health|March 1, 2019
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot StudyRobin P Goin-Kochel, Fernando Scaglia, Christian P Schaaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Nature Genetics|October 1, 2013
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismChristian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, et al.
Human Molecular Genetics|August 14, 2003
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletionsWei Yu, Blake C Ballif, Catherine D Kashork, et al.
Pageof 19