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Meredith Wilson

Showing results (51-60 of 68) with videos related to

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Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
Pageof 7