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Pengfei Liu

Showing results (1181-1190 of 1,193) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage modelJiaqi Liu, Nan Wu, , et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 120

Showing results (1181-1190 of 1,193) with videos related to

Sort By:
Pageof 120
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage modelJiaqi Liu, Nan Wu, , et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Pageof 120