M. Durkie: search on Z-Library

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1

Genetic Testing in the Assessment of Living Related Kidney Donors at Risk of Autosomal Dominant Polycystic Kidney Disease

Simms, Roslyn J., Travis, Debbie L., Durkie, Miranda, Wilson, Gill, Dalton, Ann, Ong, Albert C.M.

Journal:

Transplantation Journal

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

2

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

Durkie, Miranda, Chong, Jiehan, Valluru, Manoj K., Harris, Peter C., Ong, Albert C. M.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 1.42 MB

2020

3

A study of Wilson disease mutations in Britain

Diana Curtis, Miranda Durkie, Pauline Balac (Morris), Donna Sheard, Anne Goodeve, Ian Peake, Oliver Quarrell, Stuart Tanner

Journal:

Year:

1999

Language:

english

File:

PDF, 253 KB

english, 1999

4

Genetic hemochromatosis in α1-antitrypsis–deficient liver disease

M J Sharrard, M Durkie, M S Tanner

Journal:

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

5

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

N. Simon Thomas, Miranda Durkie, Berendine Van Zyl, Richard Sanford, Gemma Potts, Sheila Youings, Nicholas Dennis, Patricia Jacobs

Journal:

Year:

2006

Language:

english

File:

PDF, 238 KB

english, 2006

6

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

Thomas, N Simon, Durkie, Miranda, Potts, Gemma, Sandford, Richard, Van Zyl, Berendine, Youings, Sheila, Dennis, Nicholas R, Jacobs, Patricia A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

7

Genetic polymorphisms and fracture risk in children

H.Z. Blades, W. Carlino, M. Durkie, A. Dalton, N.J. Bishop

Journal:

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

8

Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation

M. Chopra, R. Jackson, M. Durkie, N.J. Beauchamp, E.P. Kirk

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 113 KB

english, 2009

9

38 Testing for epidermal growth factor receptor mutations in non-small cell lung cancer: a population-based analysis in North Trent

Das, T., Durkie, M., Woll, P.J., Hatton, M.Q., Mohanamurali, J., Lee, C., Fisher, P.M., Danson, S.

Journal:

Year:

2011

Language:

english

File:

PDF, 92 KB

english, 2011

10

35 The first 12 months of UK diagnostic services for EGFR gene mutations in NSCLC patients

Butler, R., Clark, C., Deans, Z., Durkie, M., Gonzalez, D., Taniere, P., Wallace, A.

Journal:

Year:

2011

Language:

english

File:

PDF, 37 KB

english, 2011

11

Genetic hemochromatosis in α1-antitrypsis–deficient liver disease

MJ Sharrard, M Durkie, MS Tanner

Journal:

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

12

A genetic study of Wilson's disease in the United Kingdom

Coffey, A. J., Durkie, M., Hague, S., McLay, K., Emmerson, J., Lo, C., Klaffke, S., Joyce, C. J., Dhawan, A., Hadzic, N., Mieli-Vergani, G., Kirk, R., Elizabeth Allen, K., Nicholl, D., Wong, S., Griff

Journal:

Year:

2013

Language:

english

File:

PDF, 391 KB

english, 2013

13

Glycogen storage disease type III in the Irish population

Crushell, Ellen, Treacy, Eileen P., Dawe, J., Durkie, M., Beauchamp, Nicholas J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 116 KB

english, 2010

14

Fumarase Deficiency in Dichorionic Diamniotic Twins

Tregoning, Simone, Salter, Wendy, Thorburn, David R., Durkie, Miranda, Panayi, Maria, Wu, Joyce Y., Easterbrook, Aaron, Coman, David J

Journal:

Twin Research and Human Genetics

Year:

2013

Language:

english

File:

PDF, 117 KB

english, 2013

15

Mood during Epidural Patient-controlled Analgesia with Morphine or Fentanyl

Tsueda, Kentaro, Mosca, Phillip J., Heine, Michael F., Loyd, Gary E., Durkis, Deirdre A. E., Malkani, Arthur L., Hurst, Harrell E.

Journal:

Year:

1998

File:

PDF, 5.35 MB

1998

16

Mood During Epidural Patient-Controlled Analgesia With Morphine or Fentanyl

UEDA, KENTARO TS, MOSCA, PHILLIP J., HEINE, MICHAEL F., LOYD, GARY E., DURKIS, DEIRDRE A.E., MALKANI, ARTHUR L., HURST, HARRELL E.

Journal:

Survey of Anesthesiology

Year:

1999

File:

PDF, 602 KB

1999

17

Lineage-specific chimerism monitoring after allogeneic haematopoietic stem cell transplantation: do we really know what we are measuring?

Watson, Mark B., Clouston, Hazel J., Snowden, John A., Wilson, Gill, Durkie, Miranda, Ward, Rosalie, Kaur, Harpreet, Travis, Debbie, Barnett, David

Journal:

British Journal of Haematology

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

18

Pharmacological activation of estrogen receptors-α andï¿½-β differentially modulates keratinocyte differentiation with functional impact on wound healing

Peržeľovï¿½, Vlasta, Sabol, František, Vasilenko, Tomï¿½š, Novotnï¿½, Martin, Kovï¿½č, Ivan, Slezï¿½k, Martin, Ďurkï¿½č, Jï¿½n, Hollï¿½, Martin, Pilï¿½tovï¿½, Martina, Szabo, Pavol, Varinskï¿½, Lenka,

Journal:

International Journal of Molecular Medicine

Year:

2015

Language:

english

File:

PDF, 788 KB

english, 2015

19

TO033VERY EARLY-ONSET AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE DUE TO BI-ALLELIC MUTATIONS IN PKD1 AND PKD2

Chong, Jiehan, Durkie, Miranda, Dalton, Ann, Ong, Albert

Journal:

Nephrology Dialysis Transplantation

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

20

SAT-334 GENETIC TESTING OF FAMILIES WITH VERY EARLY ONSET POLYCYSTIC KIDNEY DISEASE REVEALS THE FUNCTIONAL SIGNIFICANCE OF HYPOMORPHIC VARIANTS

Durkie, M., Chong, J., Ong, A.

Journal:

Kidney International Reports

Year:

2019

Language:

english

File:

PDF, 120 KB

english, 2019

21

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George J, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy, Cranston, Treena, Palmer-Smith, Shei

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 778 KB

2020

22

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Garrett, Alice, Durkie, Miranda, Callaway, Alison, Burghel, George J, Robinson, Rachel, Drummond, James, Torr, Bethany, Cubuk, Cankut, Berry, Ian R, Wallace, Andrew J, Ellard, Sian, Eccles, Diana M, T

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 377 KB

2020