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American Journal of Medical Genetics. Part A
|
August 20, 2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence
Emily K Mis, Samir Al-Ali, Weizhen Ji, et al.
Nature Methods
|
September 1, 2015
CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo
Miguel A Moreno-Mateos, Charles E Vejnar, Jean-Denis Beaudoin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 17, 2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Anisa Bibi, Weizhen Ji, Lauren Jeffries, et al.
The Journal of Clinical Investigation
|
January 7, 2020
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Jonathan Marquez, June Criscione, Rebekah M Charney, et al.
Development (Cambridge, England)
|
October 20, 2018
<i>RPSA</i>, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in <i>Xenopus</i>
John N Griffin, Samuel B Sondalle, Andrew Robson, et al.
Biology Open
|
February 27, 2026
Ccdc57 regulates cilia and left-right patterning in Xenopus
Binyi Yang, Emily K Mis, Xianglin Zhou, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 10, 2025
Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy loss
Anne-Marie Landry-Voyer, Tess Holling, Emily K Mis, et al.
Journal of Medical Genetics
|
October 17, 2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Annalisa G Sega, Emily K Mis, Kristin Lindstrom, et al.
Clinical Genetics
|
September 30, 2023
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Abdullah, Shabir Hussain, Weizhen Ji, et al.
Frontiers in Physiology
|
February 11, 2020
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous <i>TNNC1</i> Variants
Maicon Landim-Vieira, Jamie R Johnston, Weizhen Ji, et al.
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Showing results (11-20 of 26) with videos related to
Sort By:
Page
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American Journal of Medical Genetics. Part A
|
August 20, 2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence
Emily K Mis, Samir Al-Ali, Weizhen Ji, et al.
Nature Methods
|
September 1, 2015
CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo
Miguel A Moreno-Mateos, Charles E Vejnar, Jean-Denis Beaudoin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 17, 2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Anisa Bibi, Weizhen Ji, Lauren Jeffries, et al.
The Journal of Clinical Investigation
|
January 7, 2020
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Jonathan Marquez, June Criscione, Rebekah M Charney, et al.
Development (Cambridge, England)
|
October 20, 2018
<i>RPSA</i>, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in <i>Xenopus</i>
John N Griffin, Samuel B Sondalle, Andrew Robson, et al.
Biology Open
|
February 27, 2026
Ccdc57 regulates cilia and left-right patterning in Xenopus
Binyi Yang, Emily K Mis, Xianglin Zhou, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 10, 2025
Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy loss
Anne-Marie Landry-Voyer, Tess Holling, Emily K Mis, et al.
Journal of Medical Genetics
|
October 17, 2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Annalisa G Sega, Emily K Mis, Kristin Lindstrom, et al.
Clinical Genetics
|
September 30, 2023
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Abdullah, Shabir Hussain, Weizhen Ji, et al.
Frontiers in Physiology
|
February 11, 2020
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous <i>TNNC1</i> Variants
Maicon Landim-Vieira, Jamie R Johnston, Weizhen Ji, et al.
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of 3