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J Taft

Showing results (281-290 of 318) with videos related to

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American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Neurology|November 10, 2004
A clinical trial of creatine in ALSJ M Shefner, M E Cudkowicz, D Schoenfeld, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Nature Genetics|April 21, 2009
Tiny RNAs associated with transcription start sites in animalsRyan J Taft, Evgeny A Glazov, Nicole Cloonan, et al.
Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Pageof 32

Showing results (281-290 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Neurology|November 10, 2004
A clinical trial of creatine in ALSJ M Shefner, M E Cudkowicz, D Schoenfeld, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Nature Genetics|April 21, 2009
Tiny RNAs associated with transcription start sites in animalsRyan J Taft, Evgeny A Glazov, Nicole Cloonan, et al.
Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Pageof 32