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Megan T Cho

Showing results (41-50 of 87) with videos related to

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Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Pageof 9

Showing results (41-50 of 87) with videos related to

Sort By:
Pageof 9
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Pageof 9