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Molecular Genetics & Genomic Medicine
|
July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome
Igor 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 22q11.2DS
Donna 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 strategies
Yunhee 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 response
Roman Alpatov, Bluma J Lesch, Mika Nakamoto-Kinoshita, et al.
American Journal of Human Genetics
|
March 21, 2000
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
D C Crawford, C E Schwartz, K L Meadows, et al.
Nature Cell Biology
|
May 21, 2013
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency
Tao Wang, Hao Wu, Yujing Li, et al.
Human Molecular Genetics
|
September 1, 2007
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Qiuping Zhang, Cornelia Bethmann, Nathalie F Worth, 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 neurogenesis
Nisha Raj, Zachary T McEachin, William Harousseau, et al.
Science Advances
|
August 16, 2023
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
Ryan H Purcell, Esra Sefik, Erica Werner, et al.
Biorxiv : the Preprint Server for Biology
|
February 7, 2023
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
Ryan H Purcell, Esra Sefik, Erica Werner, et al.
Page
of 48
Search research articles
Search
Showing results (441-450 of 471) with videos related to
Sort By:
Page
of 48
Molecular Genetics & Genomic Medicine
|
July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome
Igor 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 22q11.2DS
Donna 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 strategies
Yunhee 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 response
Roman Alpatov, Bluma J Lesch, Mika Nakamoto-Kinoshita, et al.
American Journal of Human Genetics
|
March 21, 2000
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
D C Crawford, C E Schwartz, K L Meadows, et al.
Nature Cell Biology
|
May 21, 2013
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency
Tao Wang, Hao Wu, Yujing Li, et al.
Human Molecular Genetics
|
September 1, 2007
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Qiuping Zhang, Cornelia Bethmann, Nathalie F Worth, 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 neurogenesis
Nisha Raj, Zachary T McEachin, William Harousseau, et al.
Science Advances
|
August 16, 2023
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
Ryan H Purcell, Esra Sefik, Erica Werner, et al.
Biorxiv : the Preprint Server for Biology
|
February 7, 2023
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
Ryan H Purcell, Esra Sefik, Erica Werner, et al.
Page
of 48