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Neurology
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December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
Sarah U Morton, Gregory Costain, Courtney E French, et al.
American Journal of Respiratory Cell and Molecular Biology
|
July 15, 2017
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations
Pankaj B Agrawal, Ruobing Wang, Hongmei Lisa Li, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Niklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
American Journal of Human Genetics
|
June 6, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C Green, Nidhi Shah, Casie A Genetti, et al.
Neurology
|
August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Ozge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology
|
June 20, 2020
Application of a Rat Liver Drug Bioactivation Transcriptional Response Assay Early in Drug Development That Informs Chemically Reactive Metabolite Formation and Potential for Drug-induced Liver Injury
James J Monroe, Keith Q Tanis, Alexei A Podtelezhnikov, et al.
Global Change Biology
|
April 1, 2018
Ozone pollution will compromise efforts to increase global wheat production
Gina Mills, Katrina Sharps, David Simpson, et al.
NPJ Genomic Medicine
|
July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative
Shira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report
Jaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project
Casie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Page
of 36
Search research articles
Search
Showing results (291-300 of 360) with videos related to
Sort By:
Page
of 36
Neurology
|
December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
Sarah U Morton, Gregory Costain, Courtney E French, et al.
American Journal of Respiratory Cell and Molecular Biology
|
July 15, 2017
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations
Pankaj B Agrawal, Ruobing Wang, Hongmei Lisa Li, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Niklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
American Journal of Human Genetics
|
June 6, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C Green, Nidhi Shah, Casie A Genetti, et al.
Neurology
|
August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Ozge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology
|
June 20, 2020
Application of a Rat Liver Drug Bioactivation Transcriptional Response Assay Early in Drug Development That Informs Chemically Reactive Metabolite Formation and Potential for Drug-induced Liver Injury
James J Monroe, Keith Q Tanis, Alexei A Podtelezhnikov, et al.
Global Change Biology
|
April 1, 2018
Ozone pollution will compromise efforts to increase global wheat production
Gina Mills, Katrina Sharps, David Simpson, et al.
NPJ Genomic Medicine
|
July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative
Shira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report
Jaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project
Casie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Page
of 36