D du Sart: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization

Shannon Cowie, Snezana Drmanac, Donald Swanson, Kathleen Delgrosso, Steve Huang, Desirée du Sart, Radoje Drmanac, Saul Surrey, Paolo Fortina

Journal:

Year:

2004

Language:

english

File:

PDF, 400 KB

english, 2004

2

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Peter A. Gochee, Lawrie W. Powell, Digby J. Cullen, Desiree Du Sart, Enrico Rossi, John K. Olynyk

Journal:

Gastroenterology

Year:

2002

Language:

english

File:

PDF, 587 KB

english, 2002

3

LINKING GENOTYPE AND PHENOTYPE IN HYPERTROPHIC CARDIOMYOPATHY WITH NEXT-GENERATION SEQUENCING AND CMRI

Ellims, Andris H., Iles, Leah, Ling, Liang-han, Chong, Belinda, Hare, James L., Kaye, David, Du Sart, Desiree, Taylor, Andrew

Journal:

Journal of the American College of Cardiology

Year:

2013

Language:

english

File:

PDF, 142 KB

english, 2013

4

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds

Rodney J. Scott, Mary McPhillips, Cliff J. Meldrum, Patrick E. Fitzgerald, Kirsten Adams, Allan D. Spigelman, Desiree du Sart, Kathy Tucker, Judy Kirk

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 274 KB

english, 2001

5

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Wray, Carter D., Friederich, Marisa W., du Sart, Desiree, Pantaleo, Sarah, Smet, Joél, Kucera, Cathlin, Fenton, Laura, Scharer, Gunter, Van Coster, Rudy, Van Hove, Johan L.K.

Journal:

Year:

2013

Language:

english

File:

PDF, 680 KB

english, 2013

6

Population-based genetic carrier screening for cystic fibrosis in Victoria

Archibald, Alison D, Massie, John, Smith, Melanie J, Dalton, Deborah G, du Sart, Desirée, Amor, David J

Journal:

The Medical Journal of Australia

Year:

2014

Language:

english

File:

PDF, 157 KB

english, 2014

7

Identification of Genetic Mutations in Australian Malignant Hyperthermia Families Using Sequencing of Ryr1 Hotspots

Gillies, R. L., Bjorksten, A. R., Davis, M., Du Sart, D.

Journal:

Anaesthesia and intensive care

Year:

2008

Language:

english

File:

PDF, 147 KB

english, 2008

8

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

Elsdon Storey, Desiree du Sart, Janet H. Shaw, Peter Lorentzos, Louise Kelly, R.J. McKinley Gardner, Susan M. Forrest, Ivan Biros, Garth A. Nicholson

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 263 KB

english, 2000

9

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

Lucille Voullaire, Richard Saffery, Elizabeth Earle, Danielle V. Irvine, Howard Slater, Sue Dale, Desiree du Sart, Tracy Fleming, K.H. Andy Choo

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 485 KB

english, 2001

10

X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: Application of the probe M27β to evaluate X inactivation status

Dr. Malgorzata Schmidt, Desirée Du Sart, Paul Kalitsis, Neil Fraser, Margaret Leversha, Lucille Voullaire, Dean Foster, Julie Davies, Louise Hills, Vida Petrovic, Rhonda Hutchinson

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 870 KB

english, 1991

11

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation

Desirée Du Sart, Paul Kalitsis, Malgorzata Schmidt

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 466 KB

english, 1992

12

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

Malgorzata Schmidt, Desirée Du Sart

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 979 KB

english, 1992

13

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

Anita Vinton, Michael C. Fahey, Terence J. O'Brien, Janet Shaw, Elsdon Storey, R.J. McKinlay Gardner, Peter J. Mitchell, Desirée Du Sart, John O. King

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

14

Premature arthritis is a distinct type II collagen phenotype

Peter Kannu, John F. Bateman, Susan Randle, Shannon Cowie, Desiree du Sart, Shaun McGrath, Matthew Edwards, Ravi Savarirayan

Journal:

Arthritis & Rheumatism

Year:

2010

Language:

english

File:

PDF, 353 KB

english, 2010

15

Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

Lili Li, Susan McVety, Rami Younan, Ping Liang, Desirée Du Sart, Philip H. Gordon, Pierre Hutter, Frans B.L. Hogervorst, George Chong, William D. Foulkes

Journal:

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

16

Nanoporous Network Channels from Self-Assembled Triblock Copolymer Supramolecules

Gerrit Gobius du Sart, Ivana Vukovic, Zorica Vukovic, Evgeny Polushkin, Panu Hiekkataipale, Janne Ruokolainen, Katja Loos, Gerrit ten Brinke

Journal:

Macromolecular Rapid Communications

Year:

2011

Language:

english

File:

PDF, 654 KB

english, 2011

17

Macromol. Rapid Commun. 4/2011

Gerrit Gobius du Sart, Ivana Vukovic, Zorica Vukovic, Evgeny Polushkin, Panu Hiekkataipale, Janne Ruokolainen, Katja Loos, Gerrit ten Brinke

Journal:

Macromolecular Rapid Communications

Year:

2011

File:

PDF, 371 KB

2011

18

Familial adenomatous polyposis

Finlay Macrae, D. du Sart, S. Nasioulas

Journal:

Best Practice & Research Clinical Gastroenterology

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

19

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

Paul A. James, Janet Shaw, Desiree du Sart, Ellen Craig, John F. Bateman, Ravi Savarirayan

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

20

A novel deletion–insertion mutation identified in exon 3 ofFXNin two siblings with a severe Friedreich ataxia phenotype

Marguerite V. Evans-Galea, Louise A. Corben, Justin Hasell, Charles A. Galea, Michael C. Fahey, Desirée du Sart, Martin B. Delatycki

Journal:

Year:

2011

Language:

english

File:

PDF, 357 KB

english, 2011

21

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis

AE Nisselle, MB Delatycki, V Collins, S Metcalfe, MA Aitken, D Du Sart, J Halliday, I Macciocca, A Wakefield, V Hill, A Gason, B Warner, V Calabro, R Williamson, KJ Allen

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004

22

APC gene and familial adenomatous polyposis

Desirée Du Sart

Journal:

Journal of Gastroenterology and Hepatology

Year:

2004

Language:

english

File:

PDF, 44 KB

english, 2004

23

A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA

Sart, Desirée du, Cancilla, Michael R., Earle, Elizabeth, Mao, Jen-i, Saffery, Richard, Tainton, Kellie M., Kalitsis, Paul, Martyn, John, Barry, Alyssa E., Choo, K. H. Andy

Journal:

Nature Genetics

Year:

1997

File:

PDF, 1.15 MB

1997

24

Population screening and cascade testing for carriers of SMA

Smith, Melanie, Calabro, Vanessa, Chong, Belinda, Gardiner, Nicole, Cowie, Shannon, du Sart, Desirée

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 134 KB

english, 2007

25

Direct Cloning of Human 10q25 Neocentromere DNA Using Transformation-Associated Recombination (TAR) in Yeast

Michael R. Cancilla, Kellie M. Tainton, Alyssa E. Barry, Vladimir Larionov, Natalya Kouprina, Michael A. Resnick, Desiree Du Sart, K.H.Andy Choo

Journal:

Year:

1998

Language:

english

File:

PDF, 113 KB

english, 1998

26

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Eppie M. Yiu, Lloyd K. Shield, Leslie K. Roberts, Justin O’Day, Belinda Chong, Desirée du Sart, Monique M. Ryan

Journal:

Journal of Clinical Neuroscience

Year:

2009

Language:

english

File:

PDF, 48 KB

english, 2009

27

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

MB Delatycki, KJ Allen, AE Nisselle, V Collins, S Metcalfe, D du Sart, J Halliday, MA Aitken, I Macciocca, V Hill, A Wakefield, A Ritchie, AA Gason, AJ Nicoll, LW Powell, R Williamson

Journal:

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

28

Detection of Mutations in Genes Associated with Hearing Loss Using a Microarray-Based Approach

Kirby Siemering, Shehnaaz S.M. Manji, Wendy M. Hutchison, Desiree Du Sart, Dean Phelan, Hans-Henrik M. Dahl

Journal:

The Journal of Molecular Diagnostics

Year:

2006

Language:

english

File:

PDF, 1.65 MB

english, 2006

29

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Eppie M. Yiu, Lloyd K. Shield, Leslie J. Roberts, Desirée du Sart, Belinda Chong, Justin O’Day, Monique M. Ryan

Journal:

Clinical Neurophysiology

Year:

2008

Language:

english

File:

PDF, 35 KB

english, 2008

30

Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

Michelle A. Farrar, Steve Vucic, Heather M. Johnston, Desirée du Sart, Matthew C. Kiernan

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 268 KB

english, 2013

31

CLINICAL COURSE OF CHILDHOOD FAMILIAL DILATED CARDIOMYOPATHY ASSOCIATED WITH SARCOMERIC GENE MUTATIONS

Peta M.A. Alexander, Ivan Maccioca, Belinda Chong, Desiree du Sart, Tara Bharucha, Ingrid King, Jeffrey A. Towbin, Robert G. Weintraub

Journal:

Journal of the American College of Cardiology

Year:

2011

Language:

english

File:

PDF, 240 KB

english, 2011

32

Accurate and Accessible Genetic Testing for Long QT Syndrome

Lucas Eastaugh, Jitu Vohra, Ivan Macciocca, Dean Phelan, Vanessa Connell, Ingrid Winship, Agnes Bankier, Paul James, Desiree du Sart, Andrew Davis

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

33

Genetic Testing in Children with Familial Dilated or Hypertrophic Cardiomyopathy

Tara Bharucha, Belinda Chong, Ivan Macciocca, Andrew Davis, Maggie Soliman, Vanessa Connell, Ingrid King, Desirée du Sart, Robert Weintraub

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 77 KB

english, 2008

34

Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Elizabeth Chow, Lara Lipton, Elly Lynch, Rebecca D’Souza, Clelia Aragona, Lindy Hodgkin, Gregor Brown, Ingrid Winship, Melissa Barker, Daniel Buchanan, Shannon Cowie, Steve Nasioulas, Desiree du Sart,

Journal:

Gastroenterology

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

35

Synthesis and Structural Characterization of Group 4 Metal Alkoxide Complexes of N , N , N ′ ,N ′-Tetrakis(2-hydroxyethyl)ethylenediamine and Their Use As Initiators in the Ring-Opening Polymerization (ROP) of rac -Lactide under Industrially Relevant Conditions

Chuck, Christopher J., Davidson, Matthew G., Gobius du Sart, Gerrit, Ivanova-Mitseva, Petya K., Kociok-Köhn, Gabriele I., Manton, Lois B.

Journal:

Inorganic Chemistry

Year:

2013

Language:

english

File:

PDF, 2.14 MB

english, 2013

36

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree,

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 663 KB

english, 2013

37

PW283 Identification and characterisation of a novel hypertrophic cardiomyopathy gene

Phelan, Dean, Wilson, Gabrielle, Sim, Joe, Bahlo, Melanie, Hickey, Peter, James, Paul, du Sart, Desiree, Delatyki, Martin, Amor, David, Lockhart, Paul

Journal:

Year:

2014

Language:

english

File:

PDF, 63 KB

english, 2014

38

New polymorphic DNA marker close to the fragile site FRAXA

Oostra, B.A., Hupkes, P.E., Perdon, L.F., van Bennekom, C.A., Bakker, E., Halley, D.J.J., Schmidt, M., Du Sart, D., Smits, A., Wieringa, B., van Oost, B.A.

Journal:

Year:

1990

Language:

english

File:

PDF, 469 KB

english, 1990

39

Linking Genotype and Phenotype in Hypertrophic Cardiomyopathy

Ellims, A., Iles, L., Ling, L., Chong, B., Macciocca, I., Hare, J., Kaye, D., James, P., du Sart, D., Taylor, A.

Journal:

Heart Lung & Circulation

Year:

2013

Language:

english

File:

PDF, 64 KB

english, 2013

40

Poly( tert -butyl methacrylate- b -styrene- b -4-vinylpyridine) Triblock Copolymers: Synthesis, Interactions, and Self-Assembly

du Sart, Gerrit Gobius, Rachmawati, Rachmawati, Voet, Vincent, van Ekenstein, Gert Alberda, Polushkin, Evgeny, ten Brinke, Gerrit, Loos, Katja

Journal:

Year:

2008

Language:

english

File:

PDF, 353 KB

english, 2008

41

Self-Assembly of Supramolecular Triblock Copolymer Complexes

Gobius du Sart, Gerrit, Vukovic, Ivana, Alberda van Ekenstein, Gert, Polushkin, Evgeny, Loos, Katja, ten Brinke, Gerrit

Journal:

Year:

2010

Language:

english

File:

PDF, 3.84 MB

english, 2010

42

The McConnell equation for E.S.R. spectra of symmetrical diazanaphthalenes

van den Ham, D.M.W., du Sart, J.J., van der Meer, D.

Journal:

Molecular Physics

Year:

1971

Language:

english

File:

PDF, 792 KB

english, 1971

43

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, V A, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, A K, MacNamara, E, Sart, D Du, Chong, G, F

Journal:

British Journal of Cancer

Year:

2004

Language:

english

File:

PDF, 228 KB

english, 2004

44

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype

Ellims, A. H., Iles, L. M., Ling, L.-h., Chong, B., Macciocca, I., Slavin, G. S., Hare, J. L., Kaye, D. M., Marasco, S. F., McLean, C. A., James, P. A., du Sart, D., Taylor, A. J.

Journal:

European Heart Journal - Cardiovascular Imaging

Year:

2014

Language:

english

File:

PDF, 555 KB

english, 2014

45

A novel nuclear protein binds centromeric alpha satellite DNA

Gaff, C., du Sart, D., KalltsIs, P., lannello, R., Nagy, A., Choo, K.H.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.76 MB

english, 1994

46

Isothermal crystallization and structural characterization of poly(ethylene-2,5-furanoate)

Stoclet, G., Gobius du Sart, G., Yeniad, B., de Vos, S., Lefebvre, J.M.

Journal:

Year:

2015

Language:

english

File:

PDF, 3.13 MB

english, 2015

47

Hierarchical self-assembly of two-length-scale multiblock copolymers

Brinke, Gerrit ten, Loos, Katja, Vukovic, Ivana, du Sart, Gerrit Gobius

Journal:

Journal of Physics Condensed Matter

Year:

2011

Language:

english

File:

PDF, 1.49 MB

english, 2011

48

Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

Kalman, Lisa V., Lubin, Ira M., Barker, Shannon, du Sart, Desiree, Elles, Rob, Grody, Wayne W., Pazzagli, Mario, Richards, Sue, Schrijver, Iris, Zehnbauer, Barbara

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2013

Language:

english

File:

PDF, 163 KB

english, 2013

49

Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy

Farrar, M. A., Vucic, S., Lin, C. S.- Y., Park, S. B., Johnston, H. M., du Sart, D., Bostock, H., Kiernan, M. C.

Journal:

Year:

2011

Language:

english

File:

PDF, 407 KB

english, 2011

50

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

Aliaga, S. M., Slater, H. R., Francis, D., Du Sart, D., Li, X., Amor, D. J., Alliende, A. M., Santa Maria, L., Faundes, V., Morales, P., Trigo, C., Salas, I., Curotto, B., Godler, D. E.

Journal:

Clinical Chemistry

Year:

2015

Language:

english

File:

PDF, 3.01 MB

english, 2015

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски