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Monkol Lek

Showing results (61-70 of 153) with videos related to

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NPJ Genomic Medicine|September 23, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisJasmine L F Fung, Mullin H C Yu, Shushu Huang, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
American Journal of Human Genetics|May 1, 2018
The Effect of ACTN3 Gene Doping on Skeletal Muscle PerformanceFleur C Garton, Peter J Houweling, Damjan Vukcevic, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, et al.
Nature|October 16, 2024
Quantifying constraint in the human mitochondrial genomeNicole J Lake, Kaiyue Ma, Wei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Pageof 16

Showing results (61-70 of 153) with videos related to

Sort By:
Pageof 16
NPJ Genomic Medicine|September 23, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisJasmine L F Fung, Mullin H C Yu, Shushu Huang, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
American Journal of Human Genetics|May 1, 2018
The Effect of ACTN3 Gene Doping on Skeletal Muscle PerformanceFleur C Garton, Peter J Houweling, Damjan Vukcevic, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, et al.
Nature|October 16, 2024
Quantifying constraint in the human mitochondrial genomeNicole J Lake, Kaiyue Ma, Wei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Pageof 16