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

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review

普拉德-威利综合征和安格曼综合征的临床表现、遗传学和实验室检测及分子机制的综合遗传分析:综述

Butler, Merlin G

803. Plasma GDF15 Is Persistently Elevated in Mice and Humans After Burn Injury

803. 烧伤后小鼠和人类血浆GDF15持续升高

Kimonis, Virginia E; Tamura, Roy; Gold, June-Anne; Patel, Nidhi; Surampalli, Abhilasha; Manazir, Javeria; Miller, Jennifer L; Roof, Elizabeth; Dykens, Elisabeth; Butler, Merlin G; Driscoll, Daniel J; Vogler, Thomas O; Evans, Mara R; Najarro, Kevin M; McMahan, Rachel H; Halevi, Alexandra; Wiktor, Arek J; Kovacs, Elizabeth J

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

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome

脑和血液中与普拉德-威利综合征认知和精神表型相关的转录组特征

Shahrokhi, Shokouh; Baker, Emma K; See, Michael; Ramialison, Mirana; Gamage, Dinusha; Rossello, Fernando J; Heussler, Helen; Duhig, Michael; Nicholls, Robert D; Hannan, Anthony J; Southey, Melissa C; Veatch, Olivia; Hossain, Waheeda; Bui, Minh; Amor, David J; Butler, Merlin G; Godler, David E

Integrated Genetic and Protein Mechanisms Underlying Glucagon-like Peptide-1 Receptor Agonists in Treating Diabetes Mellitus and Weight Loss

胰高血糖素样肽-1受体激动剂治疗糖尿病和减肥的整合遗传和蛋白质机制

Francis, Lucas; Butler, Merlin G

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome

RNA聚合酶I功能障碍是颅面综合征的潜在病因:综合遗传分析揭示其与22q11.2缺失综合征的相似之处

Silvey, Spencer; Lovell, Scott; Butler, Merlin G

Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations

系统性综述:脆性X综合征的终生研究——重点关注遗传学、神经发育、行为和精神病学关联

Genovese, Ann C; Butler, Merlin G

Barriers, Limitations, and Experiences with Clinical Trials-Treatment in Rare Diseases with Prader-Willi Syndrome as an Example

以普拉德-威利综合征为例,探讨罕见病临床试验治疗的障碍、局限性和经验

Butler, Merlin G; Silvey, Spencer; van Bosse, Harold J P

PTEN Gene and Autism: Genetic Underpinnings and Neurodevelopmental Impacts

PTEN基因与自闭症:遗传基础和神经发育影响

Genovese, Ann C; Butler, Merlin G

Sex-Dependent Effects of MAOA Genotypes on the Relations Between Childhood Sexual Abuse, Aggression, and Cannabis Use in Emerging Adults

MAOA基因型对童年性虐待、攻击行为和成年早期大麻使用之间关系的影响存在性别差异

Fite, Paula J; Ryder, Annie L; Baca, Selena; Hossain, Waheeda A; Manzardo, Ann; Butler, Merlin G; Bortolato, Marco