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R

Rahman, Shamima

imperial college london
H指数:0
被引数:190

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荣誉奖项

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Neuroimaging in cerebral folate deficiencies

脑叶酸缺乏症的神经影像学

Pediatric Radiology
IF2.3
2026-01-010
PRE
Biswas, Asthik; Chhatwal, Karanjot; Singh, Rahul; Hemingway, Cheryl; Hacohen, Yael; Reddy, Nihaal; Rehsi, Preeya; Siddiqui, Ata; Menzies, Lara; Mankad, Kshitij; Rahman, Shamima; Sudhakar, Sniya
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients
JOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
2025-11-150
OA
Kristensen, Erle; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Karppa, Mikko; Martikainen, Mika H.; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Sue, Carolyn M.; Walker, Judith Sylvia; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Hikmat, Omar
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

欧洲儿童与成人遗传性代谢病患者的姑息治疗：一项未被充分利用的支持性治疗与护理服务

Journal of Inherited Metabolic Disease
IF3.8
2025-10-250
OAAI
Anja Lee; Yngve Thomas Bliksrud; Michela Onali; Julia Neugebauer; Francois Eyskens; Dorothea Haas; Karin Mossler; Antije Enekwe; Beata Kiec-Wilk; Lien My Diep; Cinzia Maria Bellettato; Boris Zernikow; Maurizio Scarpa; Shamima Rahman; Trine Tangeraas; MetabERN collaboration group on palliative care
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models

泛酸二硫化物改善PPCS缺乏症患者和细胞系模型中心脏扩张性心肌病的特征

Communications Medicine
IF6.3
2025-07-310
OAAI
Fangfang Zhang; Tatjana Dorn; Barbara Gnutti; Yair Anikster; Sarah Kuebler; Rebecca Ahrens-Nicklas; Rachel Gosselin; Shamima Rahman; Ronen Durst; Enrica Zanuttigh; Miriam A. Güra; Christine M. Poch; Anna B. Meier; Karl-Ludwig Laugwitz; Hans-Joachim Schüller; Ana C. Messias; Ody C. Sibon; Dario Finazzi; Alyssa Rippert; Dong Li; Kristen Truxal; Deipanjan Nandi; Brent C. Lampert; Mildrid Yeo; Alice Gardham; Batel Nissan; Smadar Horowitz Cederboim; Alessandra Moretti; Arcangela Iuso
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
GENETICS IN MEDICINE
IF6.2
2023-02-016
OAAI
Whittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J.
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases
COMMUNICATIONS BIOLOGY
IF5.1
2023-01-1253
OAAI
Sturm, Gabriel; Karan, Kalpita R.; Monzel, Anna S.; Santhanam, Balaji; Taivassalo, Tanja; Bris, Celine; Ware, Sarah A.; Cross, Marissa; Towheed, Atif; Higgins-Chen, Albert; McManus, Meagan J.; Cardenas, Andres; Lin, Jue; Epel, Elissa S.; Rahman, Shamima; Vissing, John; Grassi, Bruno; Levine, Morgan; Horvath, Steve; Haller, Ronald G.; Lenaers, Guy; Wallace, Douglas C.; St-Onge, Marie-Pierre; Tavazoie, Saeed; Procaccio, Vincent; Kaufman, Brett A.; Seifert, Erin L.; Hirano, Michio; Picard, Martin
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

专家多学科投入通过全基因组测序最大化罕见疾病诊断

NATURE COMMUNICATIONS
IF15.7
2022-11-0710
OAAI
Macken, William L.; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E.; Patel, Yogen; Labrum, Robyn; Phadke, Rahul; Reilly, Mary M.; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Vandrovcova, Jana; Pitceathly, Robert D. S.

研究方向

暂未获取到该数据
M
Michael G. Hanna
H 指数:95论文数:1,628被引数:4.2万
J
Jan‐Willem Taanman
H 指数:50论文数:192被引数:1.0万
R
Robert D. S. Pitceathly
H 指数:36论文数:179被引数:3,727
M
Maria Bitner‐Glindzicz
H 指数:56论文数:197被引数:1.2万
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
P
Peter T. Clayton
H 指数:78论文数:434被引数:1.8万
P
Patrick F. Chinnery
H 指数:128论文数:941被引数:6.3万
C
Carl Fratter
H 指数:37论文数:111被引数:3,134
I
Iain P. Hargreaves
H 指数:45论文数:142被引数:8,329
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万