日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review

ZEB2基因致病变异在蛋白质编码区及其对临床表现的影响:综述

Hossain, Waheeda A; St Peter, Caroline; Lovell, Scott; Rafi, Syed K; Butler, Merlin G

Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions

莫瓦特-威尔逊综合征:病例报告及ZEB2基因变异类型、蛋白质缺陷和分子相互作用综述

St Peter, Caroline; Hossain, Waheeda A; Lovell, Scott; Rafi, Syed K; Butler, Merlin G

Anti-epileptic drug topiramate upregulates TGFβ1 and SOX9 expression in primary embryonic palatal mesenchyme cells: Implications for teratogenicity

抗癫痫药物托吡酯上调原代胚胎腭间充质细胞中TGFβ1和SOX9的表达:对致畸性的影响

Rafi, Syed K; Goering, Jeremy P; Olm-Shipman, Adam J; Hipp, Lauren A; Ernst, Nicholas J; Wilson, Nathan R; Hall, Everett G; Gunewardena, Sumedha; Saadi, Irfan

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

突触结合蛋白样蛋白4 (SYTL4) 和跨膜蛋白187 (TMEM187) 基因错义突变导致的高功能自闭症:SYTL4蛋白建模、蛋白-蛋白相互作用、表达谱分析和microRNA研究

Rafi, Syed K; Fernández-Jaén, Alberto; Álvarez, Sara; Nadeau, Owen W; Butler, Merlin G

Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes

自闭症谱系障碍和肥胖症已知基因与人类染色体上蛋白质编码基因分布关系的形态计量分析

McGuire, Austen B; Rafi, Syed K; Manzardo, Ann M; Butler, Merlin G

Currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high-resolution chromosome ideograms

目前公认的与人类生殖和相关不孕症相关的临床基因,并在高分辨率染色体图谱上进行了表示。

Butler, Merlin G; Rafi, Syed K; McGuire, Austen; Manzardo, Ann M

Whole exome sequencing in females with autism implicates novel and candidate genes

对患有自闭症的女性进行全外显子组测序,揭示了新的候选基因。

Butler, Merlin G; Rafi, Syed K; Hossain, Waheeda; Stephan, Dietrich A; Manzardo, Ann M

High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders.

目前已知的自闭症谱系障碍基因的高分辨率染色体示意图

Butler Merlin G, Rafi Syed K, Manzardo Ann M