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Gregory M Cooper

Showing results (181-190 of 195) with videos related to

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Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|July 9, 2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineRobert C Green, Katrina A B Goddard, Gail P Jarvik, et al.
American Journal of Human Genetics|May 17, 2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineRobert C Green, Katrina A B Goddard, Gail P Jarvik, et al.
Genome Research|June 15, 2007
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genomeElliott H Margulies, Gregory M Cooper, George Asimenos, et al.
Pageof 20

Showing results (181-190 of 195) with videos related to

Sort By:
Pageof 20
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|July 9, 2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineRobert C Green, Katrina A B Goddard, Gail P Jarvik, et al.
American Journal of Human Genetics|May 17, 2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineRobert C Green, Katrina A B Goddard, Gail P Jarvik, et al.
Genome Research|June 15, 2007
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genomeElliott H Margulies, Gregory M Cooper, George Asimenos, et al.
Pageof 20