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Keith K Vaux

Showing results (11-20 of 22) with videos related to

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American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
Pediatrics|May 3, 2013
Evidence-based recommendations for the diagnosis and treatment of pediatric acneLawrence F Eichenfield, Andrew C Krakowski, Caroline Piggott, et al.
Nature Genetics|June 2, 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Nature Genetics|May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndromeAlicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Human Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|March 29, 2016
Frequency and Complexity of De Novo Structural Mutation in AutismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Journal of Medical Genetics|July 24, 2017
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
Pediatrics|May 3, 2013
Evidence-based recommendations for the diagnosis and treatment of pediatric acneLawrence F Eichenfield, Andrew C Krakowski, Caroline Piggott, et al.
Nature Genetics|June 2, 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Nature Genetics|May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndromeAlicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Human Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|March 29, 2016
Frequency and Complexity of De Novo Structural Mutation in AutismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Journal of Medical Genetics|July 24, 2017
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Pageof 3