Literature DB >> 32400065

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Maria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, Irene Toldo, Fiorenza Soli, Licia Turolla, Franco Stanzial, Francesco Benedicenti, Cristina Marino-Buslje, Silvio C E Tosatto, Alessandra Murgia, Emanuela Leonardi.   

Abstract

Entities:  

Year:  2020        PMID: 32400065     DOI: 10.1002/humu.24012

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  2 in total

1.  Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.

Authors:  Kohei Hamanaka; Keita Miyoshi; Jia-Hui Sun; Keisuke Hamada; Takao Komatsubara; Ken Saida; Naomi Tsuchida; Yuri Uchiyama; Atsushi Fujita; Takeshi Mizuguchi; Benedicte Gerard; Allan Bayat; Berardo Rinaldi; Mitsuhiro Kato; Jun Tohyama; Kazuhiro Ogata; Yun Stone Shi; Kuniaki Saito; Satoko Miyatake; Naomichi Matsumoto
Journal:  Hum Genet       Date:  2022-01-15       Impact factor: 4.132

2.  Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.

Authors:  Chunchun Hu; Linlin He; Huiping Li; Yanhua Ding; Kaifeng Zhang; Dongyun Li; Guoqing Zhu; Bingbing Wu; Xiu Xu; Qiong Xu
Journal:  Genes (Basel)       Date:  2022-06-02       Impact factor: 4.141

  2 in total

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