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HGG Advances
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August 29, 2022
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by <i>de novo</i> KCNC2 variants
Souhrid Mukherjee, Thomas A Cassini, Ningning Hu, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism
Russell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
European Urology Focus
|
July 30, 2017
A Quality Assessment of Patient-Reported Outcome Measures for Sexual Function in Neurologic Patients Using the Consensus-based Standards for the Selection of Health Measurement Instruments Checklist: A Systematic Review
Lisette A 't Hoen, Jan Groen, Jeroen R Scheepe, et al.
Cell Stem Cell
|
December 27, 2016
Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers
Mingxia Gu, Ning-Yi Shao, Silin Sa, et al.
American Journal of Medical Genetics. Part A
|
February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2023
Practical considerations for reinterpretation of individual genetic variants
Paul S Appelbaum, Sara M Berger, Elly Brokamp, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
June 19, 2016
Macrophage bone morphogenic protein receptor 2 depletion in idiopathic pulmonary fibrosis and Group III pulmonary hypertension
Ning-Yuan Chen, Scott D Collum, Fayong Luo, et al.
American Journal of Respiratory and Critical Care Medicine
|
November 11, 2022
Molecular Function and Contribution of <i>TBX4</i> in Development and Disease
Justyna A Karolak, Carrie L Welch, Christian Mosimann, et al.
Circulation
|
October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism
Xinping Chen, Megha Talati, Joshua P Fessel, et al.
Page
of 20
Search research articles
Search
Showing results (171-180 of 198) with videos related to
Sort By:
Page
of 20
HGG Advances
|
August 29, 2022
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by <i>de novo</i> KCNC2 variants
Souhrid Mukherjee, Thomas A Cassini, Ningning Hu, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism
Russell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
European Urology Focus
|
July 30, 2017
A Quality Assessment of Patient-Reported Outcome Measures for Sexual Function in Neurologic Patients Using the Consensus-based Standards for the Selection of Health Measurement Instruments Checklist: A Systematic Review
Lisette A 't Hoen, Jan Groen, Jeroen R Scheepe, et al.
Cell Stem Cell
|
December 27, 2016
Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers
Mingxia Gu, Ning-Yi Shao, Silin Sa, et al.
American Journal of Medical Genetics. Part A
|
February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2023
Practical considerations for reinterpretation of individual genetic variants
Paul S Appelbaum, Sara M Berger, Elly Brokamp, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
June 19, 2016
Macrophage bone morphogenic protein receptor 2 depletion in idiopathic pulmonary fibrosis and Group III pulmonary hypertension
Ning-Yuan Chen, Scott D Collum, Fayong Luo, et al.
American Journal of Respiratory and Critical Care Medicine
|
November 11, 2022
Molecular Function and Contribution of <i>TBX4</i> in Development and Disease
Justyna A Karolak, Carrie L Welch, Christian Mosimann, et al.
Circulation
|
October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism
Xinping Chen, Megha Talati, Joshua P Fessel, et al.
Page
of 20