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Li, Wenhui Laura
6586  Ergebnisse:
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1

Are CUL3 variants an underreported cause of congenital hear..:

Di Francesco, Daniela ; Swenerton, Anne ; Li, Wenhui Laura...
American Journal of Medical Genetics Part A.  191 (2023)  12 - p. 2903-2907 , 2023
Link: https://doi.org/10.1002/..
 
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2

Generation of tandem alternative splice acceptor sites and ..:

Sage, Adam P. ; Lee, Hyun Kyung ; Dalmann, Joshua...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2219-2224 , 2023
Link: https://doi.org/10.1002/..
 
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3

Do PACS1 variants impeding adaptor protein binding predispo..:

Moller‐Hansen, Ashley ; Hejla, Duha ; Lee, Hyun Kyung...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2181-2187 , 2023
Link: https://doi.org/10.1002/..
 
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4

The Clinical Variant Analysis Tool: Analyzing the evidence ..:

Chin, Hui-Lin ; Gazzaz, Nour ; Huynh, Stephanie...
Genetics in Medicine.  24 (2022)  7 - p. 1512-1522 , 2022
Link: https://doi.org/10.1016/..
 
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5

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia-Hui ; Chen, Jiang ; Ayala Valenzuela, Fernando Eduardo...
PLOS Genetics.  17 (2021)  6 - p. e1009608 , 2021
Link: https://doi.org/10.1371/..
 
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6

De novo single exon deletion of AUTS2 in a patient with spe..:

Amarillo, Ina E. ; Li, Wenhui Laura ; Li, Xinmin..
American Journal of Medical Genetics Part A.  164 (2014)  4 - p. 958-965 , 2014
Link: https://doi.org/10.1002/..
 
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7

The Clinical Variant Analysis Tool: Analyzing the evidence ..:

Chin, Hui-Lin ; Gazzaz, Nour ; Huynh, Stephanie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363005/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia-Hui ; Chen, Jiang ; Valenzuela, Fernando Eduardo Ayala...
qt1v56z4bn.  , 2021
Link: https://escholarship.org..
 
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9

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia Hui ; Chen, Jiang ; Valenzuela, Fernando Eduardo Ayala...
Sun , J H , Chen , J , Valenzuela , F E A , Brown , C , Masser-Frye , D , Jones , M , Romero , L P , Rinaldi , B , Li , W L , Li , Q Q , Wu , D , Gerard , B , Thorpe , E , Bayat , A & Shi , Y S 2021 , ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ' , PLOS Genetics , vol. 17 , no. 6 , e1009608 . https://doi.org/10.1371/journal.pgen.1009608.  , 2021
Link: https://portal.findresea..
 
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10

COVID-19 Outbreak — New York City, February 29–June 1, 2020:

Thompson, Corinne N. ; Baumgartner, Jennifer ; Pichardo, Carolina...
Morbidity and Mortality Weekly Report.  69 (2020)  46 - p. 1725-1729 , 2020
Link: https://www.jstor.org/st..
 
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11

X-linked neonatal-onset epileptic encephalopathy associated..:

Jia-Hui Sun ; Jiang Chen ; Fernando Eduardo Ayala Valenzuela...
https://doi.org/10.1371/journal.pgen.1009608.  , 2021
Link: https://doi.org/10.1371/..
 
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12

Overexpression of GLUA3 and R660T regulate AMPAR-EPSC decay..:

Jia-Hui Sun (9083885) ; Jiang Chen (583708) ; Fernando Eduardo Ayala Valenzuela (11015019)...
https://figshare.com/articles/figure/Overexpression_of_GLUA3_and_R660T_regulate_AMPAR-EPSC_decay_in_hippocampal_CA1_pyramidal_neurons_/14831253.  , 2021
Link: https://doi.org/10.1371/..
 
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13

GLUA3_R660T variant slowed the deactivation and desensitiza..:

Jia-Hui Sun (9083885) ; Jiang Chen (583708) ; Fernando Eduardo Ayala Valenzuela (11015019)...
https://figshare.com/articles/figure/GLUA3_R660T_variant_slowed_the_deactivation_and_desensitization_of_heteromeric_GluA2_A3_receptors_/14831244.  , 2021
Link: https://doi.org/10.1371/..
 
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14

The patient and the variant in GRIA3:

Jia-Hui Sun (9083885) ; Jiang Chen (583708) ; Fernando Eduardo Ayala Valenzuela (11015019)...
https://figshare.com/articles/figure/The_patient_and_the_variant_in_i_GRIA3_i_/14831238.  , 2021
Link: https://doi.org/10.1371/..
 
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15

The deactivation and desensitization kinetics of GLUA3 and ..:

Jia-Hui Sun (9083885) ; Jiang Chen (583708) ; Fernando Eduardo Ayala Valenzuela (11015019)...
https://figshare.com/articles/figure/The_deactivation_and_desensitization_kinetics_of_GLUA3_and_GLUA2_A3_and_variant_in_the_presence_of_TARP_-2_/14831247.  , 2021
Link: https://doi.org/10.1371/..
 
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