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Showing results (151-160 of 229) with videos related to

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American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Annals of the Rheumatic Diseases|June 14, 2022
Distinct stromal and immune cell interactions shape the pathogenesis of rheumatoid and psoriatic arthritisAchilleas Floudas, Conor M Smith, Orla Tynan, et al.
Science Advances|November 26, 2021
Amilorides inhibit SARS-CoV-2 replication in vitro by targeting RNA structuresMartina Zafferani, Christina Haddad, Le Luo, et al.
Journal of Medical Genetics|August 13, 2015
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndromeCori DeSanto, Kristin D'Aco, Gabriel C Araujo, et al.
Biorxiv : the Preprint Server for Biology|December 10, 2020
Amilorides inhibit SARS-CoV-2 replication in vitro by targeting RNA structuresZafferani Martina, Haddad Christina, Luo Le, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Pageof 23

Showing results (151-160 of 229) with videos related to

Sort By:
Pageof 23
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Annals of the Rheumatic Diseases|June 14, 2022
Distinct stromal and immune cell interactions shape the pathogenesis of rheumatoid and psoriatic arthritisAchilleas Floudas, Conor M Smith, Orla Tynan, et al.
Science Advances|November 26, 2021
Amilorides inhibit SARS-CoV-2 replication in vitro by targeting RNA structuresMartina Zafferani, Christina Haddad, Le Luo, et al.
Journal of Medical Genetics|August 13, 2015
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndromeCori DeSanto, Kristin D'Aco, Gabriel C Araujo, et al.
Biorxiv : the Preprint Server for Biology|December 10, 2020
Amilorides inhibit SARS-CoV-2 replication in vitro by targeting RNA structuresZafferani Martina, Haddad Christina, Luo Le, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Pageof 23