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Stephan Zuchner

Showing results (11-20 of 149) with videos related to

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Medical Science Monitor : International Medical Journal of Experimental and Clinical Research|January 30, 2008
Lipid levels are associated with a regulatory polymorphism of the monoamine oxidase-A gene promoter (MAOA-uVNTR)Beverly H Brummett, Stephen H Boyle, Ilene C Siegler, et al.
Database : the Journal of Biological Databases and Curation|April 16, 2020
Prot2HG: a database of protein domains mapped to the human genomeDavid Stanek, Dana M Bis-Brewer, Cima Saghira, et al.
Nucleic Acids Research|December 23, 2021
Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryosElena Lo Furno, Isabelle Busseau, Antoine Aze, et al.
The EMBO Journal|February 8, 2022
A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycleManatsu Morikawa, Nivedita U Jerath, Tadayuki Ogawa, et al.
Case Reports in Neurology|July 27, 2023
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, et al.
Scientific Data|September 9, 2020
Large scale in silico characterization of repeat expansion variation in human genomesSarah Fazal, Matt C Danzi, Vivian P Cintra, et al.
Human Mutation|April 26, 2013
High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Liyong Wang, Karen Nuytemans, Guney Bademci, et al.
American Journal of Human Genetics|June 30, 2005
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson diseaseSofia A Oliveira, Yi-Ju Li, Maher A Noureddine, et al.
American Journal of Medical Genetics. Part A|February 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorderIrman Forghani, Steven H Lang, Matthew J Rodier, et al.
Journal of Alzheimer'S Disease : JAD|October 15, 2013
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs diseaseNatalia Dolzhanskaya, Michael A Gonzalez, Fiorella Sperziani, et al.
Pageof 15

Showing results (11-20 of 149) with videos related to

Sort By:
Pageof 15
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research|January 30, 2008
Lipid levels are associated with a regulatory polymorphism of the monoamine oxidase-A gene promoter (MAOA-uVNTR)Beverly H Brummett, Stephen H Boyle, Ilene C Siegler, et al.
Database : the Journal of Biological Databases and Curation|April 16, 2020
Prot2HG: a database of protein domains mapped to the human genomeDavid Stanek, Dana M Bis-Brewer, Cima Saghira, et al.
Nucleic Acids Research|December 23, 2021
Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryosElena Lo Furno, Isabelle Busseau, Antoine Aze, et al.
The EMBO Journal|February 8, 2022
A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycleManatsu Morikawa, Nivedita U Jerath, Tadayuki Ogawa, et al.
Case Reports in Neurology|July 27, 2023
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, et al.
Scientific Data|September 9, 2020
Large scale in silico characterization of repeat expansion variation in human genomesSarah Fazal, Matt C Danzi, Vivian P Cintra, et al.
Human Mutation|April 26, 2013
High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Liyong Wang, Karen Nuytemans, Guney Bademci, et al.
American Journal of Human Genetics|June 30, 2005
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson diseaseSofia A Oliveira, Yi-Ju Li, Maher A Noureddine, et al.
American Journal of Medical Genetics. Part A|February 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorderIrman Forghani, Steven H Lang, Matthew J Rodier, et al.
Journal of Alzheimer'S Disease : JAD|October 15, 2013
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs diseaseNatalia Dolzhanskaya, Michael A Gonzalez, Fiorella Sperziani, et al.
Pageof 15