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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

American journal of human genetics

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME.
PMID: 28863274
Am J Hum Genet. 2016 Mar 03;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 03.

No abstract available.

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Al Turki S, Manickaraj AK, Mercer CL, et al. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet. 2016;98(3):592doi: 10.1016/j.ajhg.2016.02.016.
Al Turki, S., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M. P., Lindsay, S., D'Alessandro, L. C. A., Swaminathan, G. J., Bentham, J., Arndt, A. K., Louw, J., Breckpot, J., Gewillig, M., Thienpont, B., Abdul-Khaliq, H., Harnack, C., Hoff, K., Kramer, H. H., Schubert, S., Siebert, R., Toka, O., Cosgrove, C., Watkins, H., Lucassen, A. M., O'Kelly, I. M., Salmon, A. P., Bu'Lock, F. A., Granados-Riveron, J., Setchfield, K., Thornborough, C., Brook, J. D., Mulder, B., Klaassen, S., Bhattacharya, S., Devriendt, K., FitzPatrick, D. R., Wilson, D. I., Mital, S., & Hurles, M. E. (2016). Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. American journal of human genetics, 98(3), 592. https://doi.org/10.1016/j.ajhg.2016.02.016
Al Turki, Saeed, et al. "Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans." American journal of human genetics vol. 98,3 (2016): 592. doi: https://doi.org/10.1016/j.ajhg.2016.02.016
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet. 2016 Mar 03;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 03. PMID: 28863274; PMCID: PMC4800046.
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Optimization of crystal nucleation close to a metastable fluid-fluid phase transition.

Scientific reports

Wedekind J, Xu L, Buldyrev SV, Stanley HE, Reguera D, Franzese G.
PMID: 26095898
Sci Rep. 2015 Jun 22;5:11260. doi: 10.1038/srep11260.

The presence of a metastable fluid-fluid critical point is thought to dramatically influence the crystallization pathway, increasing the nucleation rate by many orders of magnitude over the predictions of classical nucleation theory. We use molecular dynamics simulations to study...

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Wedekind J, Xu L, Buldyrev SV, et al. Optimization of crystal nucleation close to a metastable fluid-fluid phase transition. Sci Rep. 2015;5:11260doi: 10.1038/srep11260.
Wedekind, J., Xu, L., Buldyrev, S. V., Stanley, H. E., Reguera, D., & Franzese, G. (2015). Optimization of crystal nucleation close to a metastable fluid-fluid phase transition. Scientific reports, 511260. https://doi.org/10.1038/srep11260
Wedekind, Jan, et al. "Optimization of crystal nucleation close to a metastable fluid-fluid phase transition." Scientific reports vol. 5 (2015): 11260. doi: https://doi.org/10.1038/srep11260
Wedekind J, Xu L, Buldyrev SV, Stanley HE, Reguera D, Franzese G. Optimization of crystal nucleation close to a metastable fluid-fluid phase transition. Sci Rep. 2015 Jun 22;5:11260. doi: 10.1038/srep11260. PMID: 26095898; PMCID: PMC4476038.
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Colliding-Droplet Microreactor: Rapid On-Demand Inertial Mixing and Metal-Catalyzed Aqueous Phase Oxidation Processes.

Analytical chemistry

Davis RD, Jacobs MI, Houle FA, Wilson KR.
PMID: 29083875
Anal Chem. 2017 Nov 21;89(22):12494-12501. doi: 10.1021/acs.analchem.7b03601. Epub 2017 Nov 08.

In-depth investigations of the kinetics of aqueous chemistry occurring in microdroplet environments require experimental techniques that allow a reaction to be initiated at a well-defined point in time and space. Merging microdroplets of different reactants is one such approach....

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Davis RD, Jacobs MI, Houle FA, et al. Colliding-Droplet Microreactor: Rapid On-Demand Inertial Mixing and Metal-Catalyzed Aqueous Phase Oxidation Processes. Anal Chem. 2017;89(22):12494-12501doi: 10.1021/acs.analchem.7b03601.
Davis, R. D., Jacobs, M. I., Houle, F. A., & Wilson, K. R. (2017). Colliding-Droplet Microreactor: Rapid On-Demand Inertial Mixing and Metal-Catalyzed Aqueous Phase Oxidation Processes. Analytical chemistry, 89(22), 12494-12501. https://doi.org/10.1021/acs.analchem.7b03601
Davis, Ryan D, et al. "Colliding-Droplet Microreactor: Rapid On-Demand Inertial Mixing and Metal-Catalyzed Aqueous Phase Oxidation Processes." Analytical chemistry vol. 89,22 (2017): 12494-12501. doi: https://doi.org/10.1021/acs.analchem.7b03601
Davis RD, Jacobs MI, Houle FA, Wilson KR. Colliding-Droplet Microreactor: Rapid On-Demand Inertial Mixing and Metal-Catalyzed Aqueous Phase Oxidation Processes. Anal Chem. 2017 Nov 21;89(22):12494-12501. doi: 10.1021/acs.analchem.7b03601. Epub 2017 Nov 08. PMID: 29083875.
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Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder.

Journal of neurodevelopmental disorders

Channell MM, Phillips BA, Loveall SJ, Conners FA, Bussanich PM, Klinger LG.
PMID: 25657824
J Neurodev Disord. 2015;7(1):5. doi: 10.1186/1866-1955-7-5. Epub 2015 Jan 17.

BACKGROUND: Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own...

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Channell MM, Phillips BA, Loveall SJ, et al. Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder. J Neurodev Disord. 2015;7(1):5doi: 10.1186/1866-1955-7-5.
Channell, M. M., Phillips, B. A., Loveall, S. J., Conners, F. A., Bussanich, P. M., & Klinger, L. G. (2015). Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder. Journal of neurodevelopmental disorders, 7(1), 5. https://doi.org/10.1186/1866-1955-7-5
Channell, Marie Moore, et al. "Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder." Journal of neurodevelopmental disorders vol. 7,1 (2015): 5. doi: https://doi.org/10.1186/1866-1955-7-5
Channell MM, Phillips BA, Loveall SJ, Conners FA, Bussanich PM, Klinger LG. Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder. J Neurodev Disord. 2015;7(1):5. doi: 10.1186/1866-1955-7-5. Epub 2015 Jan 17. PMID: 25657824; PMCID: PMC4318440.
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The role of SBRT in oligometastatic patients with liver metastases from breast cancer.

Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology

Scorsetti M, Franceschini D, De Rose F, Comito T, Franzese C, Masci G, Torrisi R, Viganò L, Torzilli G.
PMID: 28490988
Rep Pract Oncol Radiother. 2017 Mar-Apr;22(2):163-169. doi: 10.1016/j.rpor.2016.07.008. Epub 2016 Sep 05.

Liver metastases from breast cancer are a common occurrence. Local ablative therapies are a promising therapeutic option for these patients, with the potential for a long term disease control in the setting of "oligometastatic patients". Identification of the perfect...

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Scorsetti M, Franceschini D, De Rose F, et al. The role of SBRT in oligometastatic patients with liver metastases from breast cancer. Rep Pract Oncol Radiother. 2016;22(2):163-169doi: 10.1016/j.rpor.2016.07.008.
Scorsetti, M., Franceschini, D., De Rose, F., Comito, T., Franzese, C., Masci, G., Torrisi, R., Viganò, L., & Torzilli, G. (2017). The role of SBRT in oligometastatic patients with liver metastases from breast cancer. Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 22(2), 163-169. https://doi.org/10.1016/j.rpor.2016.07.008
Scorsetti, Marta, et al. "The role of SBRT in oligometastatic patients with liver metastases from breast cancer." Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology vol. 22,2 (2017): 163-169. doi: https://doi.org/10.1016/j.rpor.2016.07.008
Scorsetti M, Franceschini D, De Rose F, Comito T, Franzese C, Masci G, Torrisi R, Viganò L, Torzilli G. The role of SBRT in oligometastatic patients with liver metastases from breast cancer. Rep Pract Oncol Radiother. 2017 Mar-Apr;22(2):163-169. doi: 10.1016/j.rpor.2016.07.008. Epub 2016 Sep 05. PMID: 28490988; PMCID: PMC5411907.
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Neuropsychological function in bulimia with comorbid borderline personality disorder and depression.

Acta neuropsychiatrica

Bourke CM, Porter RJ, Sullivan P, Bulik CM, Carter FA, McIntosh VV, Joyce PR.
PMID: 26989968
Acta Neuropsychiatr. 2006 Jun;18(3):162-7. doi: 10.1111/j.1601-5215.2006.00148.x.

BACKGROUND: In bulimia nervosa (BN), borderline personality disorder (BPD) and major depression (MDD) are frequently comorbid conditions. Executive function has been found to be impaired in BPD and MDD, but the impact of comorbidity on neuropsychological function has rarely...

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Bourke CM, Porter RJ, Sullivan P, et al. Neuropsychological function in bulimia with comorbid borderline personality disorder and depression. Acta Neuropsychiatr. 2006;18(3):162-7doi: 10.1111/j.1601-5215.2006.00148.x.
Bourke, C. M., Porter, R. J., Sullivan, P., Bulik, C. M., Carter, F. A., McIntosh, V. V., & Joyce, P. R. (2006). Neuropsychological function in bulimia with comorbid borderline personality disorder and depression. Acta neuropsychiatrica, 18(3), 162-7. https://doi.org/10.1111/j.1601-5215.2006.00148.x
Bourke, Cecilia M, et al. "Neuropsychological function in bulimia with comorbid borderline personality disorder and depression." Acta neuropsychiatrica vol. 18,3 (2006): 162-7. doi: https://doi.org/10.1111/j.1601-5215.2006.00148.x
Bourke CM, Porter RJ, Sullivan P, Bulik CM, Carter FA, McIntosh VV, Joyce PR. Neuropsychological function in bulimia with comorbid borderline personality disorder and depression. Acta Neuropsychiatr. 2006 Jun;18(3):162-7. doi: 10.1111/j.1601-5215.2006.00148.x. PMID: 26989968.
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A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Cold Spring Harbor molecular case studies

Griffin LB, Farley FA, Antonellis A, Keegan CE.
PMID: 27551683
Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000943. doi: 10.1101/mcs.a000943.

Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features...

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Griffin LB, Farley FA, Antonellis A, et al. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb Mol Case Stud. 2016;2(4):a000943doi: 10.1101/mcs.a000943.
Griffin, L. B., Farley, F. A., Antonellis, A., & Keegan, C. E. (2016). A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harbor molecular case studies, 2(4), a000943. https://doi.org/10.1101/mcs.a000943
Griffin, Laurie Beth, et al. "A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures." Cold Spring Harbor molecular case studies vol. 2,4 (2016): a000943. doi: https://doi.org/10.1101/mcs.a000943
Griffin LB, Farley FA, Antonellis A, Keegan CE. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000943. doi: 10.1101/mcs.a000943. PMID: 27551683; PMCID: PMC4990810.
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Early Adversity and Developmental Outcomes: Interaction Between Genetics, Epigenetics, and Social Experiences Across the Life Span.

Perspectives on psychological science : a journal of the Association for Psychological Science

Champagne FA.
PMID: 26162197
Perspect Psychol Sci. 2010 Sep;5(5):564-74. doi: 10.1177/1745691610383494.

Longitudinal studies in humans demonstrate the association between prenatal and postnatal experiences of adversity and long-term changes in neurodevelopment. These studies raise the question of how experiences become incorporated at a biological level to induce persistent changes in functioning....

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Champagne FA. Early Adversity and Developmental Outcomes: Interaction Between Genetics, Epigenetics, and Social Experiences Across the Life Span. Perspect Psychol Sci. 2010;5(5):564-74doi: 10.1177/1745691610383494.
Champagne, F. A. (2010). Early Adversity and Developmental Outcomes: Interaction Between Genetics, Epigenetics, and Social Experiences Across the Life Span. Perspectives on psychological science : a journal of the Association for Psychological Science, 5(5), 564-74. https://doi.org/10.1177/1745691610383494
Champagne, Frances A. "Early Adversity and Developmental Outcomes: Interaction Between Genetics, Epigenetics, and Social Experiences Across the Life Span." Perspectives on psychological science : a journal of the Association for Psychological Science vol. 5,5 (2010): 564-74. doi: https://doi.org/10.1177/1745691610383494
Champagne FA. Early Adversity and Developmental Outcomes: Interaction Between Genetics, Epigenetics, and Social Experiences Across the Life Span. Perspect Psychol Sci. 2010 Sep;5(5):564-74. doi: 10.1177/1745691610383494. PMID: 26162197.
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Human Umbilical Cord Blood for Transplantation Therapy in Myocardial Infarction.

Journal of stem cell research & therapy

Acosta SA, Franzese N, Staples M, Weinbren NL, Babilonia M, Patel J, Merchant N, Simancas AJ, Slakter A, Caputo M, Patel M, Franyuti G, Franzblau MH, Suarez L, Gonzales-Portillo C, Diamandis T, Shinozuka K, Tajiri N, Sanberg PR, Kaneko Y, Miller LW, Borlongan CV.
PMID: 24307973
J Stem Cell Res Ther. 2013 Jul 01;

Cell-based therapy is a promising therapy for myocardial infarction. Endogenous repair of the heart muscle after myocardial infarction is a challenge because adult cardiomyocytes have a limited capacity to proliferate and replace damaged cells. Pre-clinical and clinical evidence has...

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Acosta SA, Franzese N, Staples M, et al. Human Umbilical Cord Blood for Transplantation Therapy in Myocardial Infarction. J Stem Cell Res Ther. 2013;
Acosta, S. A., Franzese, N., Staples, M., Weinbren, N. L., Babilonia, M., Patel, J., Merchant, N., Simancas, A. J., Slakter, A., Caputo, M., Patel, M., Franyuti, G., Franzblau, M. H., Suarez, L., Gonzales-Portillo, C., Diamandis, T., Shinozuka, K., Tajiri, N., Sanberg, P. R., Kaneko, Y., Miller, L. W., & Borlongan, C. V. (2013). Human Umbilical Cord Blood for Transplantation Therapy in Myocardial Infarction. Journal of stem cell research & therapy, .
Acosta, Sandra A, et al. "Human Umbilical Cord Blood for Transplantation Therapy in Myocardial Infarction." Journal of stem cell research & therapy vol. (2013).
Acosta SA, Franzese N, Staples M, Weinbren NL, Babilonia M, Patel J, Merchant N, Simancas AJ, Slakter A, Caputo M, Patel M, Franyuti G, Franzblau MH, Suarez L, Gonzales-Portillo C, Diamandis T, Shinozuka K, Tajiri N, Sanberg PR, Kaneko Y, Miller LW, Borlongan CV. Human Umbilical Cord Blood for Transplantation Therapy in Myocardial Infarction. J Stem Cell Res Ther. 2013 Jul 01; PMID: 24307973; PMCID: PMC3845524.
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Light-induced metastable states in oxalatenitrosylruthenium(II) and terpyridinenitrosylruthenium(II) complexes.

Inorganic chemistry

Ferlay S, Schmalle HW, Francese G, Stoeckli-Evans H, Imlau M, Schaniel D, Woike T.
PMID: 15154814
Inorg Chem. 2004 May 31;43(11):3500-6. doi: 10.1021/ic0350178.

Two extremely long lived metastable states (SI and SII) can be accessed by irradiation with light in the blue-green spectral range at temperatures below 200 K in Cs(2)[Ru(ox)(NO)Cl(3)], [Ni(cyclam)][Ru(ox)(NO)Cl(3)].3H(2)O, and [Ru(terpy)(NO)(OH)Cl][PF(6)]. The crystal structures of the ground states of...

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Ferlay S, Schmalle HW, Francese G, et al. Light-induced metastable states in oxalatenitrosylruthenium(II) and terpyridinenitrosylruthenium(II) complexes. Inorg Chem. 2004;43(11):3500-6doi: 10.1021/ic0350178.
Ferlay, S., Schmalle, H. W., Francese, G., Stoeckli-Evans, H., Imlau, M., Schaniel, D., & Woike, T. (2004). Light-induced metastable states in oxalatenitrosylruthenium(II) and terpyridinenitrosylruthenium(II) complexes. Inorganic chemistry, 43(11), 3500-6. https://doi.org/10.1021/ic0350178
Ferlay, Sylvie, et al. "Light-induced metastable states in oxalatenitrosylruthenium(II) and terpyridinenitrosylruthenium(II) complexes." Inorganic chemistry vol. 43,11 (2004): 3500-6. doi: https://doi.org/10.1021/ic0350178
Ferlay S, Schmalle HW, Francese G, Stoeckli-Evans H, Imlau M, Schaniel D, Woike T. Light-induced metastable states in oxalatenitrosylruthenium(II) and terpyridinenitrosylruthenium(II) complexes. Inorg Chem. 2004 May 31;43(11):3500-6. doi: 10.1021/ic0350178. PMID: 15154814.
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Predictions of dynamic behavior under pressure for two scenarios to explain water anomalies.

Physical review letters

Kumar P, Franzese G, Stanley HE.
PMID: 18352207
Phys Rev Lett. 2008 Mar 14;100(10):105701. doi: 10.1103/PhysRevLett.100.105701. Epub 2008 Mar 11.

Using Monte Carlo simulations and mean field calculations for a cell model of water we find a dynamic crossover in the orientational correlation time tau from non-Arrhenius behavior at high temperatures to Arrhenius behavior at low temperatures. This dynamic...

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Kumar P, Franzese G, Stanley HE. Predictions of dynamic behavior under pressure for two scenarios to explain water anomalies. Phys Rev Lett. 2008;100(10):105701doi: 10.1103/PhysRevLett.100.105701.
Kumar, P., Franzese, G., & Stanley, H. E. (2008). Predictions of dynamic behavior under pressure for two scenarios to explain water anomalies. Physical review letters, 100(10), 105701. https://doi.org/10.1103/PhysRevLett.100.105701
Kumar, Pradeep, et al. "Predictions of dynamic behavior under pressure for two scenarios to explain water anomalies." Physical review letters vol. 100,10 (2008): 105701. doi: https://doi.org/10.1103/PhysRevLett.100.105701
Kumar P, Franzese G, Stanley HE. Predictions of dynamic behavior under pressure for two scenarios to explain water anomalies. Phys Rev Lett. 2008 Mar 14;100(10):105701. doi: 10.1103/PhysRevLett.100.105701. Epub 2008 Mar 11. PMID: 18352207.
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Molecular dynamics study of orientational cooperativity in water.

Physical review. E, Statistical, nonlinear, and soft matter physics

Kumar P, Franzese G, Buldyrev SV, Stanley HE.
PMID: 16711807
Phys Rev E Stat Nonlin Soft Matter Phys. 2006 Apr;73(4):041505. doi: 10.1103/PhysRevE.73.041505. Epub 2006 Apr 10.

Recent experiments on liquid water show collective dipole orientation fluctuations dramatically slower than expected (with relaxation time > 50 ns) [D.P. Shelton, Phys. Rev. B 72, 020201(R) (2005)]. Molecular dynamics simulations of extended simple point charge (SPC/E) water show...

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Kumar P, Franzese G, Buldyrev SV, et al. Molecular dynamics study of orientational cooperativity in water. Phys Rev E Stat Nonlin Soft Matter Phys. 2006;73(4):041505doi: 10.1103/PhysRevE.73.041505.
Kumar, P., Franzese, G., Buldyrev, S. V., & Stanley, H. E. (2006). Molecular dynamics study of orientational cooperativity in water. Physical review. E, Statistical, nonlinear, and soft matter physics, 73(4), 041505. https://doi.org/10.1103/PhysRevE.73.041505
Kumar, Pradeep, et al. "Molecular dynamics study of orientational cooperativity in water." Physical review. E, Statistical, nonlinear, and soft matter physics vol. 73,4 (2006): 041505. doi: https://doi.org/10.1103/PhysRevE.73.041505
Kumar P, Franzese G, Buldyrev SV, Stanley HE. Molecular dynamics study of orientational cooperativity in water. Phys Rev E Stat Nonlin Soft Matter Phys. 2006 Apr;73(4):041505. doi: 10.1103/PhysRevE.73.041505. Epub 2006 Apr 10. PMID: 16711807.
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Showing 1 to 12 of 408 entries