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Paldeep S Atwal

Showing results (61-70 of 85) with videos related to

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Muscle & Nerve|November 19, 2016
Early-onset limb-girdle muscular dystrophy-2L in a female athletePatrick R Blackburn, Duygu Selcen, Jessica L Jackson, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossificationAditi Gupta, Michael T Zimmermann, Haitao Wang, et al.
Ophthalmic Genetics|September 17, 2020
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophyAbhimanyu S Ahuja, Pavalan Selvam, Charitha Vadlamudi, et al.
BMC Medical Genetics|December 7, 2016
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor ticsPatrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2019
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segmentsShiyu Luo, C Alexander Valencia, Jinglan Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 28, 2018
Biparental Inheritance of Mitochondrial DNA in HumansShiyu Luo, C Alexander Valencia, Jinglan Zhang, et al.
Hepatology (Baltimore, Md.)|January 29, 2025
Discovery of a MET -driven monogenic cause of steatotic liver diseaseFilippo Pinto E Vairo, Michael T Zimmermann, Jessica Wagenknecht, et al.
The Journal of Clinical Endocrinology and Metabolism|December 25, 2019
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With ObesityPatrick R Blackburn, Adrienne E Sullivan, Alexis G Gerassimou, et al.
Pageof 9

Showing results (61-70 of 85) with videos related to

Sort By:
Pageof 9
Muscle & Nerve|November 19, 2016
Early-onset limb-girdle muscular dystrophy-2L in a female athletePatrick R Blackburn, Duygu Selcen, Jessica L Jackson, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossificationAditi Gupta, Michael T Zimmermann, Haitao Wang, et al.
Ophthalmic Genetics|September 17, 2020
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophyAbhimanyu S Ahuja, Pavalan Selvam, Charitha Vadlamudi, et al.
BMC Medical Genetics|December 7, 2016
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor ticsPatrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2019
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segmentsShiyu Luo, C Alexander Valencia, Jinglan Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 28, 2018
Biparental Inheritance of Mitochondrial DNA in HumansShiyu Luo, C Alexander Valencia, Jinglan Zhang, et al.
Hepatology (Baltimore, Md.)|January 29, 2025
Discovery of a MET -driven monogenic cause of steatotic liver diseaseFilippo Pinto E Vairo, Michael T Zimmermann, Jessica Wagenknecht, et al.
The Journal of Clinical Endocrinology and Metabolism|December 25, 2019
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With ObesityPatrick R Blackburn, Adrienne E Sullivan, Alexis G Gerassimou, et al.
Pageof 9