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

Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.

Ighmbp2 突变和疾病病理:定义区分 SMARD1 和 CMT2S 的差异

Ricardez Hernandez Sara M, Ahmed Bassil, Al Rawi Yaser, Torres F Javier Llorente, Garro Kacher Mona O, Smith Catherine L, Al Rawi Zayd, Garcia Jessica, Nichols Nicole L, Lorson Christian L, Lorson Monique A

Experimenting With the New Frontier: Artificial Intelligence-Powered Chat Bots in Hand Surgery

探索新领域:人工智能聊天机器人在手外科手术中的应用

Al Rawi, Zayd M; Kirby, Benjamin J; Albrecht, Peter A; Nuelle, Julia A V; London, Daniel A

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.

Ighmbp2D564N 小鼠模型是第一个表现出呼吸缺陷的 SMARD1 模型

Smith Caley E, Lorson Monique A, Ricardez Hernandez Sara M, Al Rawi Zayd, Mao Jiude, Marquez Jose, Villalón Eric, Keilholz Amy N, Smith Catherine L, Garro-Kacher Mona O, Morcos Toni, Davis Daniel J, Bryda Elizabeth C, Nichols Nicole L, Lorson Christian L