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Stephen T Warren

Showing results (81-90 of 99) with videos related to

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Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
Blood|January 9, 2007
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levelsKevin R Viel, Deepa K Machiah, Diane M Warren, et al.
American Journal of Human Genetics|August 5, 2022
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neuronsAlena Kozlova, Siwei Zhang, Alex V Kotlar, et al.
Cell Reports|August 10, 2017
The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila NeuronsRick S Bienkowski, Ayan Banerjee, J Christopher Rounds, et al.
Molecular Genetics & Genomic Medicine|July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndromeIgor Albizua, Krista Charen, Lisa Shubeck, et al.
Journal of Medical Genetics|December 13, 2012
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, et al.
Nature Neuroscience|August 20, 2021
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategiesYunhee Kang, Ying Zhou, Yujing Li, et al.
Cell|May 13, 2014
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage responseRoman Alpatov, Bluma J Lesch, Mika Nakamoto-Kinoshita, et al.
Nature Cell Biology|May 21, 2013
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotencyTao Wang, Hao Wu, Yujing Li, et al.
Cell Reports|April 14, 2021
Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesisNisha Raj, Zachary T McEachin, William Harousseau, et al.
Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:
Pageof 10
Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
Blood|January 9, 2007
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levelsKevin R Viel, Deepa K Machiah, Diane M Warren, et al.
American Journal of Human Genetics|August 5, 2022
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neuronsAlena Kozlova, Siwei Zhang, Alex V Kotlar, et al.
Cell Reports|August 10, 2017
The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila NeuronsRick S Bienkowski, Ayan Banerjee, J Christopher Rounds, et al.
Molecular Genetics & Genomic Medicine|July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndromeIgor Albizua, Krista Charen, Lisa Shubeck, et al.
Journal of Medical Genetics|December 13, 2012
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, et al.
Nature Neuroscience|August 20, 2021
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategiesYunhee Kang, Ying Zhou, Yujing Li, et al.
Cell|May 13, 2014
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage responseRoman Alpatov, Bluma J Lesch, Mika Nakamoto-Kinoshita, et al.
Nature Cell Biology|May 21, 2013
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotencyTao Wang, Hao Wu, Yujing Li, et al.
Cell Reports|April 14, 2021
Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesisNisha Raj, Zachary T McEachin, William Harousseau, et al.
Pageof 10