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Nicholas Smith

Showing results (141-150 of 149) with videos related to

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Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
The New England Journal of Medicine|October 9, 2024
Lentiviral Gene Therapy for Cerebral AdrenoleukodystrophyFlorian Eichler, Christine N Duncan, Patricia L Musolino, et al.
Data in Brief|November 11, 2017
Dataset of the livability performance of the city of Birmingham, UK, as measured by its citizen wellbeing, resource security, resource efficiency and carbon emissionsJoanne M Leach, Susan E Lee, Christopher T Boyko, et al.
Circulation. Cardiovascular Genetics|September 24, 2014
Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginineNicole Lüneburg, Wolfgang Lieb, Tanja Zeller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnosesRocio Rius, Alison G Compton, Naomi L Baker, et al.
Research Square|May 18, 2026
Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillationSean Jurgens, Nobuyuki Enzan, Ian Dinsmore, et al.
American Journal of Human Genetics|March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
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Showing results (141-150 of 149) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 149 results.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
The New England Journal of Medicine|October 9, 2024
Lentiviral Gene Therapy for Cerebral AdrenoleukodystrophyFlorian Eichler, Christine N Duncan, Patricia L Musolino, et al.
Data in Brief|November 11, 2017
Dataset of the livability performance of the city of Birmingham, UK, as measured by its citizen wellbeing, resource security, resource efficiency and carbon emissionsJoanne M Leach, Susan E Lee, Christopher T Boyko, et al.
Circulation. Cardiovascular Genetics|September 24, 2014
Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginineNicole Lüneburg, Wolfgang Lieb, Tanja Zeller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnosesRocio Rius, Alison G Compton, Naomi L Baker, et al.
Research Square|May 18, 2026
Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillationSean Jurgens, Nobuyuki Enzan, Ian Dinsmore, et al.
American Journal of Human Genetics|March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
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