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Kerith-Rae Dias

Showing results (1-10 of 19) with videos related to

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Pathology|March 30, 2016
Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision makingRicardo De Paoli-Iseppi, Peter A Johansson, Alexander M Menzies, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|August 23, 2012
A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposaseScott Brouilette, Scott Kuersten, Charles Mein, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, 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.
Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Pathology|March 30, 2016
Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision makingRicardo De Paoli-Iseppi, Peter A Johansson, Alexander M Menzies, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|August 23, 2012
A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposaseScott Brouilette, Scott Kuersten, Charles Mein, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, 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.
Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
Pageof 2