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Christian Windpassinger

Showing results (41-50 of 69) with videos related to

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Medicine|September 1, 2017
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reportsAli Al Kaissi, Christian Windpassinger, Farid Ben Chehida, et al.
Cancer Research|April 6, 2006
Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemiaArmin Zebisch, Philipp B Staber, Ali Delavar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Gene|May 21, 2022
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codonErich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, et al.
Neuro-Oncology|January 28, 2014
Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathwaysEva Bernhart, Sabine Damm, Petra Heffeter, et al.
Molecular Genetics and Genomics : MGG|October 18, 2006
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndromeErwin Petek, Thomas Schwarzbraun, Abdul Noor, et al.
Biotechnology and Applied Biochemistry|November 26, 2021
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPMSadam Hussain, Amjad Nawaz, Malaika Hamid, et al.
Brain : a Journal of Neurology|July 10, 2004
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi, Peter Van den Bergh, Luciano Merlini, et al.
Clinical Genetics|June 4, 2023
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codonsLukas Kaufmann, Johannes Pilic, Lisa Auinger, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Medicine|September 1, 2017
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reportsAli Al Kaissi, Christian Windpassinger, Farid Ben Chehida, et al.
Cancer Research|April 6, 2006
Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemiaArmin Zebisch, Philipp B Staber, Ali Delavar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Gene|May 21, 2022
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codonErich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, et al.
Neuro-Oncology|January 28, 2014
Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathwaysEva Bernhart, Sabine Damm, Petra Heffeter, et al.
Molecular Genetics and Genomics : MGG|October 18, 2006
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndromeErwin Petek, Thomas Schwarzbraun, Abdul Noor, et al.
Biotechnology and Applied Biochemistry|November 26, 2021
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPMSadam Hussain, Amjad Nawaz, Malaika Hamid, et al.
Brain : a Journal of Neurology|July 10, 2004
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi, Peter Van den Bergh, Luciano Merlini, et al.
Clinical Genetics|June 4, 2023
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codonsLukas Kaufmann, Johannes Pilic, Lisa Auinger, et al.
Pageof 7