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

Evaluation of APOE ɛ2/ɛ3/ɛ4 Alleles in a Cohort of Individuals Affected by Developmental Topographical Disorientation

对一组受发育性地形定向障碍影响的个体进行 APOE ɛ2/ɛ3/ɛ4 等位基因的评估

Barclay, Sarah F; Potocki, Kendra; Burles, Ford; Bech-Hansen, N Torben; Iaria, Giuseppe

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A).

Cacna1f 的转基因表达可挽救先天性静止性夜盲症 2A (CSNB2A) 小鼠模型的视力和视网膜形态

Waldner Derek M, Ito Kenichi, Chen Li-Li, Nguyen Lisa, Chow Robert L, Lee Amy, Rancourt Derrick E, Tremblay Francois, Stell William K, Bech-Hansen N Torben

Avian Adeno-Associated Viral Transduction of the Postembryonic Chicken Retina

禽腺相关病毒转导鸡胚后视网膜

Derek M Waldner ,Frank Visser ,Andy J Fischer ,N Torben Bech-Hansen ,William K Stell

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

ROHHAD 与普拉德-威利综合征 (PWS):临床和遗传学比较

Barclay, Sarah F; Rand, Casey M; Nguyen, Lisa; Wilson, Richard J A; Wevrick, Rachel; Gibson, William T; Bech-Hansen, N Torben; Weese-Mayer, Debra E

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

快速发作的肥胖症伴下丘脑功能障碍、通气不足和自主神经功能紊乱(ROHHAD):三联体、单卵双胞胎和肿瘤的外显子组测序

Barclay, Sarah F; Rand, Casey M; Borch, Lauren A; Nguyen, Lisa; Gray, Paul A; Gibson, William T; Wilson, Richard J A; Gordon, Paul M K; Aung, Zaw; Berry-Kravis, Elizabeth M; Ize-Ludlow, Diego; Weese-Mayer, Debra E; Bech-Hansen, N Torben

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

由 MYO7A、PCDH15、USH2A 或 GPR98 基因突变引起的 Usher 综合征具有共同的视网膜疾病机制。

Jacobson, Samuel G; Cideciyan, Artur V; Aleman, Tomas S; Sumaroka, Alexander; Roman, Alejandro J; Gardner, Leigh M; Prosser, Haydn M; Mishra, Monalisa; Bech-Hansen, N Torben; Herrera, Waldo; Schwartz, Sharon B; Liu, Xue-Zhong; Kimberling, William J; Steel, Karen P; Williams, David S