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

Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers

产前西罗莫司对心脏横纹肌瘤和脑结节的影响

Vergote, S; Van der Veeken, L; Chitayat, D; Jaeggi, E; Ryan, G; Miller, E; Shinar, S

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

体验急性基因组护理:新生儿和儿科重症监护病房家长对快速基因组测序的看法

Mackley, Michael P; Dickson, Megan A; Szuto, Anna; Anderson, James; Chitayat, David; Hayeems, Robin Z; Mendoza-Londono, Roberto; Ng, Eugene; Offringa, Martin; Wang, Yi Wen; Ly, Linh G; Chad, Lauren

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Examining aspects of job satisfaction associated with burnout and factors related to turnover intention in genetic counselors

探讨遗传咨询师工作满意度与职业倦怠相关的因素以及与离职意愿相关的因素

Stanley, Kaitlin J; MacFarlane, Ian M; Randall Armel, Susan; Chitayat, David; Johnstone, Brittney

The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure

当代产科实践中头皮穿刺术的演变:从紧急干预到计划性手术

Windrim, Catherine; Kunpalin, Yada; AlRefai, Alyaa; Holloway, Erica; Kelly, Edmond N; McParland, Peter; McAuliffe, Fionnuala M; Chitayat, David; Abbasi, Nimrah; Shinar, Shiri; Windrim, Rory; Seaward, Gareth; Keunen, Johannes; Van Mieghem, Tim; Ryan, Greg

Library transgenesis in zebrafish through delayed site-specific mosaic integration for in vivo pooled screening of transgenes

通过延迟位点特异性嵌合整合在斑马鱼中进行文库转基因,用于转基因的体内混合筛选

Bracha, Shahar; Amsterdam, Adam; Xu, Yasu; Chitayat, Liyam; Sinha, Anubhav; Boyden, Edward

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R

MGA-related syndrome: A proposed novel disorder

MGA相关综合征:一种新提出的疾病

McGivern, Bobbi; Morrow, Michelle M; Torti, Erin; McWalter, Kirsty; Wentzensen, Ingrid M; Monaghan, Kristin G; Gerard, Amanda; Robak, Laurie; Chitayat, David; Botsford, Claire; Jurgensmeyer, Sarah; Leahy, Peter; Kruszka, Paul

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome

产前诊断的鲁宾斯坦-泰比综合征的脑部异常

Carmant, Laurence S; Miller, Elka; Blaser, Susan; Shannon, Patrick; Chong, Karen; Chitayat, David; Shinar, Shiri

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis

KIDINS220 变异与胼胝体发育不全和导水管狭窄相关

Ghannad-Zadeh, Kimia; Shannon, Patrick; Jobling, Rebekah; Miller, Elka; Chong, Karen; Mathews, Erin; Chitayat, David; Shinar, Shiri