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Showing results (91-100 of 173) with videos related to

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Clinical Pharmacokinetics|August 25, 2021
Pharmacokinetics and Exposure-Response of Vosoritide in Children with AchondroplasiaMing Liang Chan, Yulan Qi, Kevin Larimore, et al.
Plos One|March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu, Chad A Shaw, Ankita Patel, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|February 28, 2013
Next-generation sequencing for disorders of low and high bone mineral densityG Sule, P M Campeau, V W Zhang, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
American Journal of Human Genetics|October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movementShenzhao Lu, Mengqi Ma, Xiao Mao, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
Human Molecular Genetics|March 28, 2009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho, Feng Zhang, Pengfei Liu, et al.
Pageof 18

Showing results (91-100 of 173) with videos related to

Sort By:
Pageof 18
Clinical Pharmacokinetics|August 25, 2021
Pharmacokinetics and Exposure-Response of Vosoritide in Children with AchondroplasiaMing Liang Chan, Yulan Qi, Kevin Larimore, et al.
Plos One|March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesXinyan Lu, Chad A Shaw, Ankita Patel, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|February 28, 2013
Next-generation sequencing for disorders of low and high bone mineral densityG Sule, P M Campeau, V W Zhang, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
American Journal of Human Genetics|October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movementShenzhao Lu, Mengqi Ma, Xiao Mao, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
Human Molecular Genetics|March 28, 2009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingClaudia M B Carvalho, Feng Zhang, Pengfei Liu, et al.
Pageof 18