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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Häberle, Johannes ; Shchelochkov, Oleg A. ; Wang, Jing ; Katsonis, Panagiotis ; Hall, Lynn ; Reiss, Sara ; Eeds, Angela ; Willis, Alecia ; Yadav, Meeta ; Summar, Samantha ; Lichtarge, Olivier ; Rubio, Vicente ; Wong, Lee-Jun ; Summar, Marshall

Human mutation, 2011-06, Vol.32 (6), p.579-589 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
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Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

Mitchell, Sabrina ; Ellingson, Clint ; Coyne, Thomas ; Hall, Lynn ; Neill, Meaghan ; Christian, Natalie ; Higham, Catherine ; Dobrowolski, Steven F ; Tuchman, Mendel ; Summar, Marshall

Human mutation, 2009, Vol.30 (1), p.56-60 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
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Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

Caldovic, Ljubica ; Morizono, Hiroki ; Panglao, Maria G. ; Lopez, Giselle Y. ; Shi, Dashuang ; Summar, Marshall L. ; Tuchman, Mendel

Human mutation, 2005-03, Vol.25 (3), p.293-298 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children
Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children
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Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children

Vera, Kimberly B. ; Moore, Donald ; Flack, English ; Liske, Michael ; Summar, Marshall Erzurum, Serpil

Pulmonary Medicine, 2012-01, Vol.2012, p.301475-6 [Periódico revisado por pares]

Egypt: Hindawi Limiteds

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5
Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations
Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations
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Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations

Häberle, Johannes ; Shchelochkov, Oleg A. ; Wang, Jing ; Katsonis, Panagiotis ; Hall, Lynn ; Reiss, Sara ; Eeds, Angela ; Willis, Alecia ; Yadav, Meeta ; Summar, Samantha ; Lichtarge, Olivier ; Rubio, Vicente ; Wong, Lee-Jun ; Summar, Marshall

Human mutation, 2011-06, Vol.32 (6), p.579-589 [Periódico revisado por pares]

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6
Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool
Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool
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Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

Diez-Fernandez, Carmen ; Martínez, Ana I. ; Pekkala, Satu ; Barcelona, Belén ; Pérez-Arellano, Isabel ; Guadalajara, Ana María ; Summar, Marshall ; Cervera, Javier ; Rubio, Vicente

Human mutation, 2013-08, Vol.34 (8), p.1149-1159 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous ?-subunit mutations
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous ?-subunit mutations
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Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous ?-subunit mutations

Spiekerkoetter, Ute ; Eeds, Angela ; Yue, Zou ; Haines, Jonathan ; Strauss, Arnold W. ; Summar, Marshall

Human mutation, 2002-12, Vol.20 (6), p.447-451 [Periódico revisado por pares]

Hoboken: Wiley Periodicals Inc

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8
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Stankiewicz, Paweł ; Kulkarni, Shashikant ; Dharmadhikari, Avinash V. ; Sampath, Srirangan ; Bhatt, Samarth S. ; Shaikh, Tamim H. ; Xia, Zhilian ; Pursley, Amber N. ; Cooper, M. Lance ; Shinawi, Marwan ; Paciorkowski, Alex R. ; Grange, Dorothy K. ; Noetzel, Michael J. ; Saunders, Scott ; Simons, Paul ; Summar, Marshall ; Lee, Brendan ; Scaglia, Fernando ; Fellmann, Florence ; Martinet, Danielle ; Beckmann, Jacques S. ; Asamoah, Alexander ; Platky, Kathryn ; Sparks, Susan ; Martin, Ann S. ; Madan-Khetarpal, Suneeta ; Hoover, Jacqueline ; Medne, Livija ; Bonnemann, Carsten G. ; Moeschler, John B. ; Vallee, Stephanie E. ; Parikh, Sumit ; Irwin, Polly ; Dalzell, Victoria P. ; Smith, Wendy E. ; Banks, Valerie C. ; Flannery, David B. ; Lovell, Carolyn M. ; Bellus, Gary A. ; Golden-Grant, Kathryn ; Gorski, Jerome L. ; Kussmann, Jennifer L. ; McGregor, Tracy L. ; Hamid, Rizwan ; Pfotenhauer, Jean ; Ballif, Blake C. ; Shaw, Chad A. ; Kang, Sung-Hae L. ; Bacino, Carlos A. ; Patel, Ankita ; Rosenfeld, Jill A. ; Cheung, Sau Wai ; Shaffer, Lisa G.

Human mutation, 2012-01, Vol.33 (1), p.165-179 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations
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Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations

Spiekerkoetter, Ute ; Eeds, Angela ; Yue, Zou ; Haines, Jonathan ; Strauss, Arnold W. ; Summar, Marshall

Human mutation, 2002-12, Vol.20 (6), p.447-451 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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