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American Journal of Human Genetics
|
December 4, 2018
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
Bobby G Ng, Jill A Rosenfeld, Lisa Emrick, et al.
JBMR Plus
|
October 5, 2018
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in <i>SERPINF1</i> Causing Osteogenesis Imperfecta Type VI
Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, et al.
Experimental Neurology
|
December 31, 2019
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption
Christina L Nemeth, Sophia N Tomlinson, Melissa Rosen, et al.
Attention Deficit and Hyperactivity Disorders
|
March 25, 2011
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate
Deeann Wallis, Mauricio Arcos-Burgos, Mahim Jain, et al.
Biological Psychiatry
|
September 5, 2006
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci
Mahim Jain, Luis Guillermo Palacio, F Xavier Castellanos, et al.
Neuron
|
April 4, 2020
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y
Thien A Nguyen, Kunwei Wu, Saurabh Pandey, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Keren Machol, Mahim Jain, Mohammed Almannai, et al.
American Journal of Human Genetics
|
December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
Eva Klopocki, Silke Lohan, Francesco Brancati, et al.
The Journal of Clinical Investigation
|
October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
David R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 56) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
December 4, 2018
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
Bobby G Ng, Jill A Rosenfeld, Lisa Emrick, et al.
JBMR Plus
|
October 5, 2018
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in <i>SERPINF1</i> Causing Osteogenesis Imperfecta Type VI
Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, et al.
Experimental Neurology
|
December 31, 2019
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption
Christina L Nemeth, Sophia N Tomlinson, Melissa Rosen, et al.
Attention Deficit and Hyperactivity Disorders
|
March 25, 2011
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate
Deeann Wallis, Mauricio Arcos-Burgos, Mahim Jain, et al.
Biological Psychiatry
|
September 5, 2006
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci
Mahim Jain, Luis Guillermo Palacio, F Xavier Castellanos, et al.
Neuron
|
April 4, 2020
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y
Thien A Nguyen, Kunwei Wu, Saurabh Pandey, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Keren Machol, Mahim Jain, Mohammed Almannai, et al.
American Journal of Human Genetics
|
December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
Eva Klopocki, Silke Lohan, Francesco Brancati, et al.
The Journal of Clinical Investigation
|
October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
David R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Page
of 6