Search research articles
Contact Us
Filters
Showing results (611-620 of 915) with videos related to
Page
of 92
Sort By:
Nature Genetics
|
March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
Gevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.
Human Molecular Genetics
|
June 9, 1998
Molecular analysis of the PDS gene in Pendred syndrome
B Coyle, W Reardon, J A Herbrick, et al.
G3 (Bethesda, Md.)
|
July 4, 2015
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
Christian R Marshall, Stephen W Scherer, Maimoona A Zariwala, et al.
NPJ Genomic Medicine
|
December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
Iris Cohn, Tara A Paton, Christian R Marshall, et al.
Cell Reports
|
December 26, 2019
Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1
Ameet S Sengar, Hongbin Li, Wenbo Zhang, et al.
Neurobiology of Disease
|
September 27, 2025
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Maria Sundberg, Carole Shum, Erika M Norabuena, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1
Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
Biological Psychiatry
|
January 22, 2022
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment
Elemi J Breetvelt, Karel C Smit, Jessica van Setten, et al.
European Journal of Human Genetics : EJHG
|
November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
Molecular Autism
|
November 21, 2017
Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, et al.
Page
of 92
Search research articles
Search
Showing results (611-620 of 915) with videos related to
Sort By:
Page
of 92
Nature Genetics
|
March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
Gevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.
Human Molecular Genetics
|
June 9, 1998
Molecular analysis of the PDS gene in Pendred syndrome
B Coyle, W Reardon, J A Herbrick, et al.
G3 (Bethesda, Md.)
|
July 4, 2015
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
Christian R Marshall, Stephen W Scherer, Maimoona A Zariwala, et al.
NPJ Genomic Medicine
|
December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
Iris Cohn, Tara A Paton, Christian R Marshall, et al.
Cell Reports
|
December 26, 2019
Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1
Ameet S Sengar, Hongbin Li, Wenbo Zhang, et al.
Neurobiology of Disease
|
September 27, 2025
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Maria Sundberg, Carole Shum, Erika M Norabuena, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1
Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
Biological Psychiatry
|
January 22, 2022
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment
Elemi J Breetvelt, Karel C Smit, Jessica van Setten, et al.
European Journal of Human Genetics : EJHG
|
November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
Molecular Autism
|
November 21, 2017
Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, et al.
Page
of 92