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Showing results (91-100 of 135) with videos related to

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Human Genetics|February 1, 2014
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeSara M Sarasua, Luigi Boccuto, Julia L Sharp, et al.
American Journal of Medical Genetics|April 29, 1998
Chromosome 18q paracentric inversion in a family with mental retardation and hearing lossK M Keppler-Noreuil, A J Carroll, S C Finley, et al.
Journal of Medical Genetics|October 11, 2011
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)Sara M Sarasua, Alka Dwivedi, Luigi Boccuto, et al.
Molecular Cytogenetics|July 15, 2021
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?Veronica Ortega, Raymond J Louie, Melanie A Jones, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
Cytogenetic and Genome Research|July 27, 2023
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical PresentationsXiaolan Fang, Benjamin Hilton, Katie Clarkson, et al.
Clinical Case Reports|October 21, 2016
Importance of genetic testing in global health during the evaluation of familial microcephalyIsaac Molinero, Jordan Broman-Fulks, Michael J Lyons, et al.
European Journal of Medical Genetics|August 22, 2020
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literatureCatherine A Ziats, Lavanya Jain, Brittany McLarney, et al.
Scandinavian Journal of Rheumatology|January 3, 2018
Early use of anakinra in adult-onset Still's disease myocarditisM-L Piel-Julian, G Moulis, P Fournier, et al.
Cytogenetic and Genome Research|November 9, 2005
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomaliesS S Bhat, K R Schmidt, S Ladd, et al.
Pageof 14

Showing results (91-100 of 135) with videos related to

Sort By:
Pageof 14
Human Genetics|February 1, 2014
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeSara M Sarasua, Luigi Boccuto, Julia L Sharp, et al.
American Journal of Medical Genetics|April 29, 1998
Chromosome 18q paracentric inversion in a family with mental retardation and hearing lossK M Keppler-Noreuil, A J Carroll, S C Finley, et al.
Journal of Medical Genetics|October 11, 2011
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)Sara M Sarasua, Alka Dwivedi, Luigi Boccuto, et al.
Molecular Cytogenetics|July 15, 2021
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?Veronica Ortega, Raymond J Louie, Melanie A Jones, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
Cytogenetic and Genome Research|July 27, 2023
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical PresentationsXiaolan Fang, Benjamin Hilton, Katie Clarkson, et al.
Clinical Case Reports|October 21, 2016
Importance of genetic testing in global health during the evaluation of familial microcephalyIsaac Molinero, Jordan Broman-Fulks, Michael J Lyons, et al.
European Journal of Medical Genetics|August 22, 2020
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literatureCatherine A Ziats, Lavanya Jain, Brittany McLarney, et al.
Scandinavian Journal of Rheumatology|January 3, 2018
Early use of anakinra in adult-onset Still's disease myocarditisM-L Piel-Julian, G Moulis, P Fournier, et al.
Cytogenetic and Genome Research|November 9, 2005
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomaliesS S Bhat, K R Schmidt, S Ladd, et al.
Pageof 14