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Author Virginia Vega Warner

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NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.

Kareshma Asharam, Rajendra Bhimma, Victor A David, Hoosen M Coovadia, Wenkosi P Qulu, Thajasvarie Naicker, Christopher E Gillies, Virginia Vega-Warner, Randall C Johnson, Sophie Limou, Jeffrey B Kopp, Mathew Sampson, George W Nelson, Cheryl A Winkler,

Introduction:In South Africa (SA), steroid-resistant nephrotic syndrome (SRNS) is more frequent in black than in Indian children. Methods:Seeking a genetic basis for this disparity, we enrolled 33 Indian and 31 black children with steroid-sensitive nephrotic syndrome (SSNS) and SRNS from KwaZulu-Natal, SA; SRNS children underwent kidney biopsy. We sequenced NPHS2 ... Read more >>

Kidney Int Rep (Kidney international reports)
[2018, 3(6):1354-1362]

Cited: 5 times

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Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A Otto, ,

A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2018, 26(9):1266-1271]

Cited: 2 times

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Am J Hum Genet (American journal of human genetics)
[2017, 101(6):1034]

Cited: 2 times

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2017, 101(5):789-802]

Cited: 12 times

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A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.

Joseph Wang, Beth Vogt, Sidharth Kumar Sethi, Matthew G Sampson, Virginia Vega-Warner, Edgar A Otto, Rupesh Raina,

Kidney Int Rep (Kidney international reports)
[2017, 2(6):1238-1242]

Cited: 0 times

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Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Brendan D Crawford, Christopher E Gillies, Catherine C Robertson, Matthias Kretzler, Edgar A Otto, Virginia Vega-Warner, Matthew G Sampson,

Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2017, 32(7):1285]

Cited: 0 times

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi,

BACKGROUND:The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. METHODS:We conducted a genomewide search for structural variants in two cohorts: ... Read more >>

N Engl J Med (The New England journal of medicine)
[2017, 376(8):742-754]

Cited: 39 times

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Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritability

Brendan Crawford, Christopher Gillies, Catherine Robertson, Matthias Kretzler, Edgar Otto, Virginia Vega-Warner, Hyun Min Kang, Matthew Sampson,

ABSTRACT Background More than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a ... Read more >>

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Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Brendan D Crawford, Christopher E Gillies, Catherine C Robertson, Matthias Kretzler, Edgar A Otto, Virginia Vega-Warner, Matthew G Sampson,

BACKGROUND:More than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a known monogenic ... Read more >>

Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2017, 32(3):467-476]

Cited: 5 times

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A Familial Infantile Renal Failure.

Sidharth K Sethi, Nikita Wadhwani, Pranaw Jha, Rajan Duggal, Virginia Vega-Warner, Rupesh Raina, Shyam B Bansal, Vijay Kher, Matthew G Sampson, Edgar A Otto,

Kidney Int Rep (Kidney international reports)
[2017, 2(2):130-133]

Cited: 0 times

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tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

Christopher E Gillies, Edgar A Otto, Virginia Vega-Warner, Catherine C Robertson, Simone Sanna-Cherchi, Ali Gharavi, Brendan Crawford, Rajendra Bhimma, Cheryl Winkler, , , Hyun Min Kang, Matthew G Sampson,

Targeted sequencing of discrete gene sets is a cost effective strategy to screen subjects for monogenic forms of disease. One method to achieve this pairs microfluidic PCR with next generation sequencing. The PCR step of this pipeline creates challenges in accurate variant calling. This includes that most reads targeting a ... Read more >>

BMC Bioinformatics (BMC bioinformatics)
[2016, 17(1):233]

Cited: 1 time

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FAT1 mutations cause a glomerulotubular nephropathy.

Heon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, Jonathan D Porath, Toma A Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A Chan, Luc G T Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V Milford, Moin A Saleem, Wee Teik Keng, Stephen I Alexander, Rudolph P Valentini, Christoph Licht, Jun C Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A Soliman, Edgar A Otto, Richard P Lifton, Lawrence B Holzman, Nicholas E S Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt,

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration ... Read more >>

Nat Commun (Nature communications)
[2016, 7:10822]

Cited: 33 times

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Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Matthew G Sampson, Christopher E Gillies, Catherine C Robertson, Brendan Crawford, Virginia Vega-Warner, Edgar A Otto, Matthias Kretzler, Hyun Min Kang,

To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS) to diagnose monogenic causes, reliably distinguishing NS-causing variants from the background of rare, noncausal variants prevalent in all genomes is vital. To determine the prevalence of monogenic NS in a North American case cohort while accounting for ... Read more >>

J Am Soc Nephrol (Journal of the American Society of Nephrology : JASN)
[2016, 27(7):1970-1983]

Cited: 19 times

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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.

Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto,

Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular diagnostics for four patients with ... Read more >>

PLoS One (PloS one)
[2015, 10(6):e0130729]

Cited: 6 times

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Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Matthew G Sampson, Catherine C Robertson, Sebastian Martini, Laura H Mariani, Kevin V Lemley, Christopher E Gillies, Edgar A Otto, Jeffrey B Kopp, Anne Randolph, Virginia Vega-Warner, Felix Eichinger, Viji Nair, Debbie S Gipson, Daniel C Cattran, Duncan B Johnstone, John F O'Toole, Serena M Bagnasco, Peter X Song, Laura Barisoni, Jonathan P Troost, Matthias Kretzler, John R Sedor, ,

APOL1 variants have been associated with renal phenotypes in blacks. To refine clinical outcomes and discover mechanisms of APOL1-associated kidney injury, we analyzed clinical and genomic datasets derived from 90 black subjects in the Nephrotic Syndrome Study Network (NEPTUNE), stratified by APOL1 risk genotype. Ninety subjects with proteinuria ≥0.5 g/d ... Read more >>

J Am Soc Nephrol (Journal of the American Society of Nephrology : JASN)
[2016, 27(3):814-823]

Cited: 50 times

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Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Emma Montgomery, John A Sayer, Laura A Baines, Ann Marie Hynes, Virginia Vega-Warner, Sally Johnson, Judith A Goodship, Edgar A Otto,

Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless (AMN) have been shown to cause IGS. To date, there are only about 300 cases ... Read more >>

BMC Med Genet (BMC medical genetics)
[2015, 16:35]

Cited: 4 times

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KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun-yi Zhu, Julia Hoefele, Lutz T Weber, Ludmila Podracka, Andrej Boor, Henry Fehrenbach, Jeffrey W Innis, Joseph Washburn, Shawn Levy, Richard P Lifton, Edgar A Otto, Zhe Han, Friedhelm Hildebrandt,

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2015, 125(6):2375-2384]

Cited: 80 times

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Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, Heon Yung Gee, Hugh J McCarthy, Svjetlana Lovric, Carolin E Sadowski, Werner Pabst, Virginia Vega-Warner, Humphrey Fang, Ania Koziell, Michael A Simpson, Ismail Dursun, Erkin Serdaroglu, Shawn Levy, Moin A Saleem, Friedhelm Hildebrandt, Arindam Majumdar,

Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2015, 96(1):153-161]

Cited: 43 times

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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A Kari, Martin Zenker, Markus J Kemper, Dominik Mueller, Hanan M Fathy, Neveen A Soliman, , Friedhelm Hildebrandt,

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are ... Read more >>

J Am Soc Nephrol (Journal of the American Society of Nephrology : JASN)
[2015, 26(6):1279-1289]

Cited: 189 times

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A boy with proteinuria and focal global glomerulosclerosis: Question and Answers.

Sidharth Kumar Sethi, Edgar A Otto, Sara Ma, Rajan Duggal, Virginia Vega-Warner, Vijay Kher,

Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2015, 30(11):1945-1949]

Cited: 2 times

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Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Svjetlana Lovric, Humphrey Fang, Virginia Vega-Warner, Carolin E Sadowski, Heon Yung Gee, Jan Halbritter, Shazia Ashraf, Pawaree Saisawat, Neveen A Soliman, Jameela A Kari, Edgar A Otto, Friedhelm Hildebrandt, ,

In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS ... Read more >>

Clin J Am Soc Nephrol (Clinical journal of the American Society of Nephrology : CJASN)
[2014, 9(6):1109-1116]

Cited: 45 times

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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Heon Yung Gee, Edgar A Otto, Toby W Hurd, Shazia Ashraf, Moumita Chaki, Andrew Cluckey, Virginia Vega-Warner, Pawaree Saisawat, Katrina A Diaz, Humphrey Fang, Stefan Kohl, Susan J Allen, Rannar Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L Innis, Stefanie Weber, Udo Vester, Erica E Davis, Nicholas Katsanis, Hanan M Fathy, Nikola Jeck, Gunther Klaus, Ahmet Nayir, Khawla A Rahim, Ibrahim Al Attrach, Ibrahim Al Hassoun, Savas Ozturk, Dorota Drozdz, Udo Helmchen, John F O'Toole, Massimo Attanasio, Richard A Lewis, Gudrun Nürnberg, Peter Nürnberg, Joseph Washburn, James MacDonald, Jeffrey W Innis, Shawn Levy, Friedhelm Hildebrandt,

Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of ... Read more >>

Kidney Int (Kidney international)
[2014, 85(4):880-887]

Cited: 37 times

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Steroid-resistant nephrotic syndrome: impact of genetic testing.

Jameela A Kari, Sherif M El-Desoky, Mamdooh Gari, Khalid Malik, Virginia Vega-Warner, Svjetlana Lovric, Detlef Bockenhauer,

Mutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1. Our aims were to determine the frequency of mutations in these genes in children with SRNS, the response of patients with SRNS to various immunosuppressants, and the disease outcome, and to ... Read more >>

Ann Saudi Med (Annals of Saudi medicine)
[2013, 33(6):533-538]

Cited: 4 times

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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B Beck, Olivier Gribouval, Weibin Zhou, Katrina A Diaz, Sivakumar Natarajan, Roger C Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S Schoeb, Bugsu Ovunc, Yaacov Frishberg, Neveen A Soliman, Hanan M Fathy, Heike Goebel, Julia Hoefele, Lutz T Weber, Jeffrey W Innis, Christian Faul, Zhe Han, Joseph Washburn, Corinne Antignac, Shawn Levy, Edgar A Otto, Friedhelm Hildebrandt,

Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We combined homozygosity mapping with whole-exome resequencing and identified ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2013, 123(8):3243-3253]

Cited: 106 times

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Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways.

Farsad Afshinnia, Virginia Vega-Warner, Paul Killen,

A 42-year-old Caucasian female with history of neurofibromatosis type 1 presented with nephrotic range proteinuria and focal segmental glomerulosclerosis (FSGS). On final dose of lisinopril 20 mg/day, protein-creatinine ratio declined to 0.33 within 10 months. We propose the hypothesis that development of FSGS in NF1 may be mediated by activation ... Read more >>

(Clinical kidney journal)
[2013, 6(2):208-210]

Cited: 6 times

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