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Daniel G MacArthur

Showing results (111-120 of 216) with videos related to

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Iscience|January 18, 2021
Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental diseaseSerdal Gungor, Yavuz Oktay, Semra Hiz, et al.
Genome Research|March 13, 2013
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomesStephen B Montgomery, David L Goode, Erika Kvikstad, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2018
Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite populationKatherine Johnson, Willem De Ridder, Ana Töpf, et al.
Nature|March 9, 2018
Corrigendum: Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Clinical Genetics|February 14, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortOwen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, et al.
Circulation. Genomic and Precision Medicine|June 2, 2026
Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in <i>GNPTAB</i>Natalie Stewart, Natasha Henden, Carlos C Smith-Díaz, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
Elife|March 25, 2020
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluriaTracy L McGregor, Karen A Hunt, Elaine Yee, et al.
Pageof 22

Showing results (111-120 of 216) with videos related to

Sort By:
Pageof 22
Iscience|January 18, 2021
Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental diseaseSerdal Gungor, Yavuz Oktay, Semra Hiz, et al.
Genome Research|March 13, 2013
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomesStephen B Montgomery, David L Goode, Erika Kvikstad, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2018
Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite populationKatherine Johnson, Willem De Ridder, Ana Töpf, et al.
Nature|March 9, 2018
Corrigendum: Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Clinical Genetics|February 14, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortOwen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, et al.
Circulation. Genomic and Precision Medicine|June 2, 2026
Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in <i>GNPTAB</i>Natalie Stewart, Natasha Henden, Carlos C Smith-Díaz, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
Elife|March 25, 2020
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluriaTracy L McGregor, Karen A Hunt, Elaine Yee, et al.
Pageof 22