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Showing results (1071-1080 of 1,084) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, 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.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, 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.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, 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.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Thoracic Cancer|September 20, 2022
Expert consensus on the diagnosis and treatment of NTRK gene fusion solid tumors in ChinaChunwei Xu, Lu Si, Wenxian Wang, et al.
Global Medical Genetics|February 28, 2024
Expert Consensus on the Diagnosis and Treatment of <i>NRG1/2</i> Gene Fusion Solid TumorsChunwei Xu, Qian Wang, Dong Wang, et al.
Global Medical Genetics|November 25, 2024
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid TumorsChunwei Xu, Bin Lian, Juanjuan Ou, et al.
Pageof 109

Showing results (1071-1080 of 1,084) with videos related to

Sort By:
Pageof 109
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, 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.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, 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.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, 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.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Thoracic Cancer|September 20, 2022
Expert consensus on the diagnosis and treatment of NTRK gene fusion solid tumors in ChinaChunwei Xu, Lu Si, Wenxian Wang, et al.
Global Medical Genetics|February 28, 2024
Expert Consensus on the Diagnosis and Treatment of <i>NRG1/2</i> Gene Fusion Solid TumorsChunwei Xu, Qian Wang, Dong Wang, et al.
Global Medical Genetics|November 25, 2024
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid TumorsChunwei Xu, Bin Lian, Juanjuan Ou, et al.
Pageof 109