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Showing results (581-590 of 621) with videos related to

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Nature Immunology|March 22, 2016
T cell-intrinsic ASC critically promotes T(H)17-mediated experimental autoimmune encephalomyelitisBradley N Martin, Chenhui Wang, Cun-jin Zhang, et al.
International Journal of Molecular Sciences|February 26, 2022
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA RetrotransposonJelena Pozojevic, Shela Marie Algodon, Joseph Neos Cruz, et al.
Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.
Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.
Annals of Neurology|April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 geneKatja Lohmann, Robert A Wilcox, Susen Winkler, et al.
American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.
Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Pageof 63

Showing results (581-590 of 621) with videos related to

Sort By:
Pageof 63
Nature Immunology|March 22, 2016
T cell-intrinsic ASC critically promotes T(H)17-mediated experimental autoimmune encephalomyelitisBradley N Martin, Chenhui Wang, Cun-jin Zhang, et al.
International Journal of Molecular Sciences|February 26, 2022
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA RetrotransposonJelena Pozojevic, Shela Marie Algodon, Joseph Neos Cruz, et al.
Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.
Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.
Annals of Neurology|April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 geneKatja Lohmann, Robert A Wilcox, Susen Winkler, et al.
American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.
Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Pageof 63