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A

Alexandra M. Dumitrescu

university of chicago
H指数:33
被引数:5,119

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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
GENETICS IN MEDICINE
IF6.2
2024-12-010
OAAI
Stoupa, Athanasia; Franca, Monica Malheiros; Abdulhadi-Atwan, Maha; Fujisawa, Haruki; Korwutthikulrangsri, Manassawee; Marchand, Isis; Polak, Gabrielle; Beltrand, Jacques; Polak, Michel; Kariyawasam, Dulanjalee; Liao, Xiao-Hui; Raimondi, Chantalle; Steigerwald, Connolly; Abreu, Nicolas J.; Bauer, Andrew J.; Carre, Aurore; Taneja, Charit; Mekhoubad, Allison Bauman; Dumitrescu, Alexandra M.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
NATURE GENETICS
IF31.8
2024-05-073
PRE
Grasberger, Helmut; Dumitrescu, Alexandra M.; Liao, Xiao-Hui; Swanson, Elliott G.; Weiss, Roy E.; Srichomkwun, Panudda; Pappa, Theodora; Chen, Junfeng; Yoshimura, Takashi; Hoffmann, Phillip; Franca, Monica Malheiros; Tagett, Rebecca; Onigata, Kazumichi; Costagliola, Sabine; Ranchalis, Jane; Vollger, Mitchell R.; Stergachis, Andrew B.; Chong, Jessica X.; Bamshad, Michael J.; Smits, Guillaume; Vassart, Gilbert; Refetoff, Samuel

研究方向

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S
Samuel Refetoff
H 指数:94论文数:706被引数:3.0万
R
Roy E. Weiss
H 指数:62论文数:269被引数:1.1万
X
Xiao-Hui Liao
H 指数:27论文数:77被引数:3,432
X
Xiao-Hui Liao
H 指数:26论文数:138被引数:3,044
J
Juan Bernal
H 指数:65论文数:275被引数:1.2万
C
Caterina Di Cosmo
H 指数:24论文数:60被引数:1,685
A
Alfonso Massimiliano Ferrara
H 指数:21论文数:70被引数:1,948
J
Jiao Fu
H 指数:12论文数:44被引数:446
Θ
Θεοδώρα Παππά
H 指数:23论文数:144被引数:2,143
H
Haruki Fujisawa
H 指数:14论文数:73被引数:810