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Christopher T Gordon

Showing results (61-70 of 84) with videos related to

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Nature Genetics|December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Nature Genetics|March 19, 2022
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Pageof 9

Showing results (61-70 of 84) with videos related to

Sort By:
Pageof 9
Nature Genetics|December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Nature Genetics|March 19, 2022
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
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