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

Gain-of-function variants in SMAD4 compromise respiratory epithelial function.

SMAD4 的功能获得性变异会损害呼吸道上皮功能

Lindsay Mark E, Scimone Eleanor R, Lawton Joseph, Richa Rashmi, Yonker Lael M, Di Yuanpu P, Buch Karen, Ouyang Wukun, Mo Xiulei, Lin Angela E, Mou Hongmei

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

成人期迈尔综合征:临床变异性和新出现的基因型-表型相关性

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R; Lindsay, Mark E; Schimmenti, Lisa A; Hinze, Alicia M; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valérie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Şenol; Arslan Ateş, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Lin, Angela E; Callewaert, Bert

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)

Myhre综合征自然史的出现:麻省总医院Myhre综合征诊所评估的47例患者(2016-2023年)

Lin, Angela E; Scimone, Eleanor R; Thom, Robyn P; Balaguru, Duraisamy; Kinane, T Bernard; Moschovis, Peter P; Cohen, Michael S; Tan, Weizhen; Hague, Cole D; Dannheim, Katelyn; Levitsky, Lynne L; Lilly, Evelyn; DiGiacomo, Daniel V; Masse, Kara M; Kadzielski, Sarah M; Zar-Kessler, Claire A; Ginns, Leo C; Neumeyer, Ann M; Colvin, Mary K; Elder, Jack S; Learn, Christopher P; Mou, Hongmei; Weagle, Kathryn M; Buch, Karen A; Butler, William E; Alhadid, Kenda; Musolino, Patricia L; Sultana, Sadia; Bandyopadhyay, Dhrubajyoti; Rapalino, Otto; Peacock, Zachary S; Chou, Elizabeth L; Heidary, Gena; Dorfman, Aaron T; Morris, Shaine A; Bergin, James D; Rayment, Jonathan H; Schimmenti, Lisa A; Lindsay, Mark E