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T Gordon

Showing results (671-680 of 700) with videos related to

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European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.
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.
Pageof 70

Showing results (671-680 of 700) with videos related to

Sort By:
Pageof 70
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.
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.
Pageof 70