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

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号易感性

Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie L P; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha I A; Goin-Kochel, Robin P; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

TM4SF20 祖先缺失与儿童早期语言发育迟缓和脑白质高信号疾病的易感性

de Bode, Stella; Fritz, Stacy; Mathern, Gary W; Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie LP; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha IA; Goin-Kochel, Robin; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L; Maletic-Savatic, Mirjana; Rosenfeld, Jill A; Shaffer, Lisa G; Davis, Erica E; Belmont, John W; Dunstan, Sarah; Simmons, Cameron P; Bonnen, Penelope E; Leal, Suzanne M; Katsanis, Nicholas; Lupski, James R; Lalani, Seema R

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

一名轻度受累成年男性患者的MECP2部分重复:3'非翻译区在MECP2重复表型中的潜在作用

Hanchard, Neil A; Carvalho, Claudia M B; Bader, Patricia; Thome, Aaron; Omo-Griffith, Lisa; del Gaudio, Daniela; Pehlivan, Davut; Fang, Ping; Schaaf, Christian P; Ramocki, Melissa B; Lupski, James R; Cheung, Sau Wai