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Jamie L. Fraser
Jamie L. Fraser
在 childrensnational.org 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
Transplantation of hypoxia-preconditioned mesenchymal stem cells improves infarcted heart function via enhanced survival of implanted cells and angiogenesis
X Hu, SP Yu, JL Fraser, Z Lu, ME Ogle, JA Wang, L Wei
The Journal of thoracic and cardiovascular surgery 135 (4), 799-808, 2008
7772008
Transplantation of hypoxia preconditioned bone marrow mesenchymal stem cells enhances angiogenesis and neurogenesis after cerebral ischemia in rats
L Wei, JL Fraser, ZY Lu, X Hu, SP Yu
Neurobiology of disease 46 (3), 635-645, 2012
4602012
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ...
American journal of medical genetics Part A 164 (7), 1713-1733, 2014
3102014
Transplantation of embryonic stem cells improves nerve repair and functional recovery after severe sciatic nerve axotomy in rats
L Cui, J Jiang, L Wei, X Zhou, JL Fraser, BJ Snider, SP Yu
Stem cells 26 (5), 1356-1365, 2008
2232008
Methylmalonic and propionic acidemias: clinical management update
JL Fraser, CP Venditti
Current opinion in pediatrics 28 (6), 682-693, 2016
2192016
Systematic relationships among Lutzomyia sand flies (Diptera: Psychodidae) of Peru and Colombia based on the analysis of 12S and 28S ribosomal DNA sequences
L Beati, AG Cáceres, JA Lee, LE Munstermann
International journal for parasitology 34 (2), 225-234, 2004
1272004
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism
MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ...
The American Journal of Human Genetics 107 (2), 352-363, 2020
762020
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
LA Adang, O Sherbini, L Ball, M Bloom, A Darbari, H Amartino, D DiVito, ...
Molecular genetics and metabolism 122 (1-2), 18-32, 2017
722017
Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors
JD Ortigoza‐Escobar, M Alfadhel, M Molero‐Luis, N Darin, R Spiegel, ...
Annals of neurology 82 (3), 317-330, 2017
692017
The role of VEGF/VEGFR2 signaling in peripheral stimulation-induced cerebral neurovascular regeneration after ischemic stroke in mice
WL Li, JL Fraser, SP Yu, J Zhu, YJ Jiang, L Wei
Experimental brain research 214, 503-513, 2011
592011
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
502023
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
N Shur, SM Atabaki, MS Kisling, A Tabarani, C Williams, JL Fraser, ...
American journal of medical genetics Part A 185 (1), 68-72, 2021
492021
Sex-specific effects of N-acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemia
X Nie, DW Lowe, LG Rollins, J Bentzley, JL Fraser, R Martin, I Singh, ...
Neuroscience research 108, 24-33, 2016
472016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
JL Fraser, A Vanderver, S Yang, T Chang, L Cramp, G Vezina, ...
Molecular Genetics and Metabolism Reports 1, 66-70, 2014
362014
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
C Klöckner, H Sticht, P Zacher, B Popp, HE Babcock, DP Bakker, ...
Genetics in Medicine 23 (4), 653-660, 2021
292021
Randomized clinical trial of first‐line genome sequencing in pediatric white matter disorders
A Vanderver, G Bernard, G Helman, O Sherbini, R Boeck, J Cohn, ...
Annals of neurology 88 (2), 264-273, 2020
282020
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
MI Mendes, LMC Green, E Bertini, D Tonduti, C Aiello, D Smith, E Salsano, ...
Annals of clinical and translational neurology 7 (1), 83-93, 2020
282020
Fosmetpantotenate randomized controlled trial in pantothenate kinase–associated neurodegeneration
T Klopstock, A Videnovic, AT Bischoff, C Bonnet, L Cif, C Comella, ...
Movement Disorders 36 (6), 1342-1352, 2021
272021
Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention
ME Lyon, JD Thompkins, K Fratantoni, JL Fraser, SE Schellinger, L Briggs, ...
BMJ supportive & palliative care 12 (e5), e705-e714, 2022
252022
Vitamin D improves functional outcomes in neonatal hypoxic ischemic male rats treated with N-acetylcysteine and hypothermia
DW Lowe, JL Fraser, LG Rollins, J Bentzley, X Nie, R Martin, I Singh, ...
Neuropharmacology 123, 186-200, 2017
222017
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