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Refinado por: Base de dados/Biblioteca: PubMed (Medline) remover tipo de recurso: Book Chapters remover
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1
Tetramolecular Quadruplex Stability and Assembly
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Tetramolecular Quadruplex Stability and Assembly

Rajendran, A. ; Endo, M. ; Hidaka, K. ; Lan Thao Tran, P. ; Mergny, J.-L. ; Sugiyama, H.

Nucleic acids research, 2013, Vol.41 (18), p.243-273 [Periódico revisado por pares]

Oxford University Press

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2
Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
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Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway

Arning, Erland ; Bottiglieri, Teodoro

JIMD Reports, Volume 29, 2016, Vol.29, p.115-115 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry
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Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry

Filee, Romain ; Schoos, Roland ; Boemer, François

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.119-128 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
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Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Falk, Marni J. ; Li, Dong ; Gai, Xiaowu ; McCormick, Elizabeth ; Place, Emily ; Lasorsa, Francesco M. ; Otieno, Frederick G. ; Hou, Cuiping ; Kim, Cecilia E. ; Abdel-Magid, Nada ; Vazquez, Lyam ; Mentch, Frank D. ; Chiavacci, Rosetta ; Liang, Jinlong ; Liu, Xuanzhu ; Jiang, Hui ; Giannuzzi, Giulia ; Marsh, Eric D. ; Guo, Yiran ; Tian, Lifeng ; Palmieri, Ferdinando ; Hakonarson, Hakon

JIMD Reports, Volume 14, 2014, Vol.14, p.119-119 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
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A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

Morita, Masashi ; Kobayashi, Junpei ; Yamazaki, Kozue ; Kawaguchi, Kosuke ; Honda, Ayako ; Sugai, Kenji ; Shimozawa, Nobuyuki ; Koide, Reiji ; Imanaka, Tsuneo

JIMD Reports - Volume 10, 2013, Vol.10, p.95-102 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine
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A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine

Garg, Pankaj ; Carpenter, Kevin ; Chong, Shanley ; Christodoulou, John

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.11-15 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity
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The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

Rhein, Cosima ; Naumann, Julia ; Mühle, Christiane ; Zill, Peter ; Adli, Mazda ; Hegerl, Ulrich ; Hiemke, Christoph ; Mergl, Roland ; Möller, Hans-Jürgen ; Reichel, Martin ; Kornhuber, Johannes

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.1-6 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs
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Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs

Vera, Moin ; Lester, Thomas ; Zhao, Bin ; Tiger, Pascale ; Clarke, Scott ; Tippin, Brigette L. ; Passage, Merry B. ; Le, Steven Q. ; Femenia, Javier ; Lemontt, Jeffrey F. ; Kakkis, Emil D. ; Dickson, Patricia I.

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.63-72 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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