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Frank J Kaiser

Showing results (31-40 of 101) with videos related to

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Scientific Reports|July 25, 2022
Evidence for correlations between BMI-associated SNPs and circRNAsLuisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, et al.
Human Mutation|June 17, 2014
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutationsFranca Vulinovic, Katja Lohmann, Aleksandar Rakovic, et al.
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
European Journal of Medical Genetics|February 4, 2014
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progressionKatrin Bürk, Frank J Kaiser, Stephanie Tennstedt, et al.
Orphanet Journal of Rare Diseases|September 10, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephaloceleLuisa Paul, Katrin Rupprich, Adela Della Marina, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 23, 2011
Homozygous THAP1 mutations as cause of early-onset generalized dystoniaSusanne A Schneider, Alfredo Ramirez, Kaveh Shafiee, et al.
International Journal of Molecular Sciences|March 1, 2017
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange SyndromeBeatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, et al.
Plos Genetics|December 21, 2017
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementJessica Zuin, Valentina Casa, Jelena Pozojevic, et al.
The International Journal of Cardiovascular Imaging|November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
International Journal of Molecular Sciences|January 8, 2023
G Protein-Coupled Receptor 15 Expression Is Associated with Myocardial InfarctionTina Haase, Christian Müller, Bastian Stoffers, et al.
Pageof 11

Showing results (31-40 of 101) with videos related to

Sort By:
Pageof 11
Scientific Reports|July 25, 2022
Evidence for correlations between BMI-associated SNPs and circRNAsLuisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, et al.
Human Mutation|June 17, 2014
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutationsFranca Vulinovic, Katja Lohmann, Aleksandar Rakovic, et al.
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
European Journal of Medical Genetics|February 4, 2014
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progressionKatrin Bürk, Frank J Kaiser, Stephanie Tennstedt, et al.
Orphanet Journal of Rare Diseases|September 10, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephaloceleLuisa Paul, Katrin Rupprich, Adela Della Marina, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 23, 2011
Homozygous THAP1 mutations as cause of early-onset generalized dystoniaSusanne A Schneider, Alfredo Ramirez, Kaveh Shafiee, et al.
International Journal of Molecular Sciences|March 1, 2017
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange SyndromeBeatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, et al.
Plos Genetics|December 21, 2017
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementJessica Zuin, Valentina Casa, Jelena Pozojevic, et al.
The International Journal of Cardiovascular Imaging|November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
International Journal of Molecular Sciences|January 8, 2023
G Protein-Coupled Receptor 15 Expression Is Associated with Myocardial InfarctionTina Haase, Christian Müller, Bastian Stoffers, et al.
Pageof 11