Found: 15
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STUDENTJAMA. The evolution and evaluation of modern medical education.
- Published in:
- 2004
- By:
- Publication type:
- Editorial
MSJAMA: Funding and practice of biomedical research.
- Published in:
- 2003
- By:
- Publication type:
- Editorial
Funding and Practice of Biomedical Research.
- Published in:
- JAMA: Journal of the American Medical Association, 2003, v. 290, n. 1, p. 112, doi. 10.1001/jama.290.1.112
- By:
- Publication type:
- Article
MSJAMA: The public health implications of global warming.
- Published in:
- 2002
- By:
- Publication type:
- Editorial
MSJAMA.
- Published in:
- JAMA: Journal of the American Medical Association, 2002, v. 287, n. 17, p. 2281
- By:
- Publication type:
- Article
Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038310
- By:
- Publication type:
- Article
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029729
- By:
- Publication type:
- Article
Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017118
- By:
- Publication type:
- Article
Tumorigenesis and neurodegeneration: two sides of the same coin?
- Published in:
- BioEssays, 2008, v. 30, n. 8, p. 719, doi. 10.1002/bies.20784
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- Publication type:
- Article
Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 2, p. 412, doi. 10.1373/clinchem.2014.231019
- By:
- Publication type:
- Article
Increased systemic HSP70B levels in spinal muscular atrophy infants.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1495, doi. 10.1002/acn3.51377
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- Publication type:
- Article
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2005, doi. 10.1093/hmg/ddt596
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- Publication type:
- Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
- By:
- Publication type:
- Article
Membrane autoantibodies in systemic lupus erythematosus: a case of autoimmune hemolytic anemia, antiphospholipid antibodies, and transient acquired activated protein C resistance.
- Published in:
- Transfusion, 2008, v. 48, n. 11, p. 2435, doi. 10.1111/j.1537-2995.2008.01877.x
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- Publication type:
- Article
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 50, doi. 10.1186/1471-2350-13-50
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- Publication type:
- Article