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American Journal of Human Genetics
|
September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Dong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
Molecular Genetics and Metabolism
|
July 30, 2018
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre
L R Ranganath, M Khedr, A M Milan, et al.
Data in Brief
|
September 29, 2018
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone
R Griffin, E E Psarelli, T F Cox, et al.
Investigative Ophthalmology & Visual Science
|
June 16, 2026
MMP9 Genotype and Systemic T-Cell Subsets Correlate With Structural and Functional Outcomes in Neovascular Age-Related Macular Degeneration
Thomas L Martinez, Zeb R Zacharias, Kyungmoo Lee, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
American Journal of Human Genetics
|
April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Biorxiv : the Preprint Server for Biology
|
March 18, 2026
<i>Chd8</i> haploinsufficiency leads to molecular layer heterotopias and age-dependent cortical expansion
Felix A Kyere, Ian Curtin, Ziquan Wei, et al.
American Journal of Human Genetics
|
May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Marianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Psychological Medicine
|
May 14, 2025
PTSD and epigenetic aging: a longitudinal meta-analysis
Xiang Zhao, Seyma Katrinli, Beth M McCormick, et al.
American Journal of Human Genetics
|
July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Hanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
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of 72
Search research articles
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Showing results (701-710 of 714) with videos related to
Sort By:
Page
of 72
American Journal of Human Genetics
|
September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Dong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
Molecular Genetics and Metabolism
|
July 30, 2018
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre
L R Ranganath, M Khedr, A M Milan, et al.
Data in Brief
|
September 29, 2018
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone
R Griffin, E E Psarelli, T F Cox, et al.
Investigative Ophthalmology & Visual Science
|
June 16, 2026
MMP9 Genotype and Systemic T-Cell Subsets Correlate With Structural and Functional Outcomes in Neovascular Age-Related Macular Degeneration
Thomas L Martinez, Zeb R Zacharias, Kyungmoo Lee, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
American Journal of Human Genetics
|
April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Biorxiv : the Preprint Server for Biology
|
March 18, 2026
<i>Chd8</i> haploinsufficiency leads to molecular layer heterotopias and age-dependent cortical expansion
Felix A Kyere, Ian Curtin, Ziquan Wei, et al.
American Journal of Human Genetics
|
May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Marianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Psychological Medicine
|
May 14, 2025
PTSD and epigenetic aging: a longitudinal meta-analysis
Xiang Zhao, Seyma Katrinli, Beth M McCormick, et al.
American Journal of Human Genetics
|
July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Hanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Page
of 72