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Plos Genetics
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March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
Kidney International
|
August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Laura R Claus, Chuan Chen, Jennifer Stallworth, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
January 22, 2021
Modeling autosomal dominant Alzheimer's disease with machine learning
Patrick H Luckett, Austin McCullough, Brian A Gordon, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
July 15, 2025
Regional effects of gantenerumab on neuroimaging biomarkers in the DIAN-TU-001 trial
Austin McCullough, Charles D Chen, Brian A Gordon, et al.
European Journal of Nuclear Medicine and Molecular Imaging
|
April 5, 2023
Longitudinal head-to-head comparison of <sup>11</sup>C-PiB and <sup>18</sup>F-florbetapir PET in a Phase 2/3 clinical trial of anti-amyloid-β monoclonal antibodies in dominantly inherited Alzheimer's disease
Charles D Chen, Austin McCullough, Brian Gordon, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
JAMA Neurology
|
April 29, 2024
Downstream Biomarker Effects of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimer Disease: The DIAN-TU-001 Randomized Clinical Trial
Olivia Wagemann, Haiyan Liu, Guoqiao Wang, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
David A Koolen, Rolph Pfundt, Katrin Linda, et al.
Page
of 73
Search research articles
Search
Showing results (701-710 of 728) with videos related to
Sort By:
Page
of 73
Plos Genetics
|
March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
Kidney International
|
August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Laura R Claus, Chuan Chen, Jennifer Stallworth, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
January 22, 2021
Modeling autosomal dominant Alzheimer's disease with machine learning
Patrick H Luckett, Austin McCullough, Brian A Gordon, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
July 15, 2025
Regional effects of gantenerumab on neuroimaging biomarkers in the DIAN-TU-001 trial
Austin McCullough, Charles D Chen, Brian A Gordon, et al.
European Journal of Nuclear Medicine and Molecular Imaging
|
April 5, 2023
Longitudinal head-to-head comparison of <sup>11</sup>C-PiB and <sup>18</sup>F-florbetapir PET in a Phase 2/3 clinical trial of anti-amyloid-β monoclonal antibodies in dominantly inherited Alzheimer's disease
Charles D Chen, Austin McCullough, Brian Gordon, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
JAMA Neurology
|
April 29, 2024
Downstream Biomarker Effects of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimer Disease: The DIAN-TU-001 Randomized Clinical Trial
Olivia Wagemann, Haiyan Liu, Guoqiao Wang, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
David A Koolen, Rolph Pfundt, Katrin Linda, et al.
Page
of 73