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Paldeep S Atwal

Showing results (31-40 of 85) with videos related to

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Human Genome Variation|September 6, 2018
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated familiesStephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, et al.
Human Genome Variation|April 13, 2018
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotypeJohn E Richter, Hector G Robles, Elizabeth Mauricio, et al.
The Neurologist|November 3, 2017
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal TremorJennifer M Gass, Anvir Cheema, Jessica Jackson, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)Kiri Sunde, Patrick R Blackburn, Anvir Cheema, et al.
Pharmacogenomics|June 11, 2021
Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomicsPeggy Determeyer, Jerome Crowder, Eimear O'Mahony, et al.
Movement Disorders Clinical Practice|March 7, 2019
A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8Jennifer M Gass, Jake McKay, Kimberly J Guthrie, et al.
Molecular Genetics & Genomic Medicine|January 30, 2019
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasiaStephanie L Hines, John E Richter, Ahmed N Mohammad, et al.
American Journal of Medical Genetics. Part A|April 9, 2022
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac featuresKatta Lavanya, Karishma Mahtani, Jessica Abbott, et al.
The Neurohospitalist|January 24, 2019
Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature ReviewMichael A Pizzi, David Alejos, Tasneem F Hasan, et al.
Cancer Genetics|January 25, 2021
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effectJohn E Richter, S Hines, Pavalan Selvam, et al.
Pageof 9

Showing results (31-40 of 85) with videos related to

Sort By:
Pageof 9
Human Genome Variation|September 6, 2018
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated familiesStephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, et al.
Human Genome Variation|April 13, 2018
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotypeJohn E Richter, Hector G Robles, Elizabeth Mauricio, et al.
The Neurologist|November 3, 2017
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal TremorJennifer M Gass, Anvir Cheema, Jessica Jackson, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)Kiri Sunde, Patrick R Blackburn, Anvir Cheema, et al.
Pharmacogenomics|June 11, 2021
Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomicsPeggy Determeyer, Jerome Crowder, Eimear O'Mahony, et al.
Movement Disorders Clinical Practice|March 7, 2019
A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8Jennifer M Gass, Jake McKay, Kimberly J Guthrie, et al.
Molecular Genetics & Genomic Medicine|January 30, 2019
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasiaStephanie L Hines, John E Richter, Ahmed N Mohammad, et al.
American Journal of Medical Genetics. Part A|April 9, 2022
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac featuresKatta Lavanya, Karishma Mahtani, Jessica Abbott, et al.
The Neurohospitalist|January 24, 2019
Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature ReviewMichael A Pizzi, David Alejos, Tasneem F Hasan, et al.
Cancer Genetics|January 25, 2021
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effectJohn E Richter, S Hines, Pavalan Selvam, et al.
Pageof 9