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American Journal of Human Genetics
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October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
American Journal of Human Genetics
|
March 3, 2022
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Shenzhao Lu, Rebecca Hernan, Paul C Marcogliese, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defects
Mengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Cell Reports
|
July 22, 2023
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
Annabel Guichard, Shenzhao Lu, Oguz Kanca, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Cerebellum (London, England)
|
February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
Andrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
American Journal of Human Genetics
|
March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Xueyang Pan, Alice M Tao, Shenzhao Lu, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
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Search research articles
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Showing results (11-20 of 19) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 19 results.
American Journal of Human Genetics
|
October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
American Journal of Human Genetics
|
March 3, 2022
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Shenzhao Lu, Rebecca Hernan, Paul C Marcogliese, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defects
Mengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Cell Reports
|
July 22, 2023
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
Annabel Guichard, Shenzhao Lu, Oguz Kanca, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Cerebellum (London, England)
|
February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
Andrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
American Journal of Human Genetics
|
March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Xueyang Pan, Alice M Tao, Shenzhao Lu, et al.
American Journal of Human Genetics
|
July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, et al.
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of 2