Heather Church: search on Z-Library

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

1

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

Chris J. Gardner, Nicola Robinson, Tim Meadows, Robert Wynn, Andrew Will, Jean Mercer, Heather J. Church, Karen Tylee, J. Edmond Wraith, Peter E. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 367 KB

english, 2011

2

Impact of Caregiver Burden on Quality of Life for Parents of Adult Children With Autism Spectrum Disorder

Marsack-Topolewski, Christina N., Church, Heather L.

Journal:

American Journal on Intellectual and Developmental Disabilities

Year:

2019

Language:

english

File:

PDF, 158 KB

english, 2019

3

High dose genistein aglycone in Sanfilippo syndrome: Results of a randomised, double-blinded, placebo controlled clinical trial

Ghosh, Arunabha, Rust, Stewart, Weisberg, Daniel, Canal, Maria, Wijburg, Frits A., Vaz, Fred M., Tylee, Karen L., Church, Heather J., Hepburn, Michelle, Bigger, Brian W., Jones, Simon A.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

4

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

Lum, Su Han, Stepien, Karolina M., Ghosh, Arunabha, Broomfield, Alexander, Church, Heather, Mercer, Jean, Jones, Simon, Wynn, Robert

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 414 KB

english, 2017

5

How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency

Church, Heather J., Brammeier, Kathryn L., Petty, June, Egerton, Christine, Righart, Jessica, Heptinstall, Lesley, Jones, Simon A., Tylee, Karen L.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 48 KB

english, 2018

6

Molecular Threading: Mechanical Extraction, Stretching and Placement of DNA Molecules from a Liquid-Air Interface

Payne, Andrew C., Andregg, Michael, Kemmish, Kent, Hamalainen, Mark, Bowell, Charlotte, Bleloch, Andrew, Klejwa, Nathan, Lehrach, Wolfgang, Schatz, Ken, Stark, Heather, Marblestone, Adam, Church, Geor

Journal:

Year:

2013

Language:

english

File:

PDF, 2.17 MB

english, 2013

7

Application of a Novel and Automated Branched DNA in Situ Hybridization Method for the Rapid and Sensitive Localization of mRNA Molecules in Plant Tissues

Bowling, Andrew J., Pence, Heather E., Church, Jeffrey B.

Journal:

Applications in Plant Sciences

Year:

2014

Language:

english

File:

PDF, 161 KB

english, 2014

8

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Pal, Abhijit Ricky, Langereis, Eveline J, Saif, Muhammad A, Mercer, Jean, Church, Heather J, Tylee, Karen L, Wynn, Robert F, Wijburg, Frits A, Jones, Simon A, Bruce, Iain A, Bigger, Brian W

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

9

Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)

Jones, Simon A., AlSayed, Moeenaldeen, Broomfield, Alexander A., White, Fiona, Roberts, Jane, Vijay, Suresh, Wu, Hoi-Yee, de las Heras, Javier, Church, Heather, Van Spronsen, Francjan J., Gökçay, Güld

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

10

Neurodevelopmental outcomes in CDH survivors: A single institution's experience

Church, Joseph T., Mon, Rodrigo, Wright, Tiffany, Coughlin, Megan A., Ladino-Torres, Maria, Tapley, Christopher, Bowen, Heather, Matusko, Niki, Mychaliska, George B.

Journal:

Journal of Pediatric Surgery

Year:

2018

Language:

english

File:

PDF, 253 KB

english, 2018

11

Urban versus Rural Residency and Allergy Prevalence among Adult Women: Iowa Women's Health Study

Patel, Niharika P., Prizment, Anna E., Thyagarajan, Bharat, Roberts, Evan, Nelson, Heather H., Church, Timothy R., Lazovich, DeAnn

Journal:

Annals of Allergy, Asthma & Immunology

Year:

2018

Language:

english

File:

PDF, 977 KB

english, 2018

12

Abnormal filipin staining and phenotypic overlap between acid sphingomyelinase deficiency and Niemann-Pick C disease

Church, Heather J., Egerton, Christine, Tylee, Karen L., Riddick, Kate, Jones, Simon A., Ramaswami, Uma

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

13

Ocean Time Series Observations of Changing Marine Ecosystems: An Era of Integration, Synthesis, and Societal Applications

Benway, Heather M., Lorenzoni, Laura, White, Angelicque E., Fiedler, Björn, Levine, Naomi M., Nicholson, David P., DeGrandpre, Michael D., Sosik, Heidi M., Church, Matthew J., O’Brien, Todd D., Leinen

Journal:

Frontiers in Marine Science

Year:

2019

Language:

english

File:

PDF, 5.16 MB

english, 2019

14

Evaluation of the Coral UTI Screen™ system for rapid automated screening of significant bacteriuria in a regional centralized laboratory

Heather Semeniuk, Janice Noonan, Harjinder Gill, Deirdre Church

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

15

Combined therapeutic approach to protein losing enteropathy complicating type 3 Gaucher disease using eliglustat

Broomfield, Alexander, Mercer, Jean, Church, Heather J, Chronopoulou, Efstathia, Pierre, Germaine, Wiskin, Anthony, Booth, Kathryn, Jones, Simon A, Sutherland, Adam

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

16

The lysosomal disease caused by mutant VPS33A

Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 36.27 MB

2019

17

Evaluation of the Xpert® group B streptococcus real-time polymerase chain reaction assay compared to StrepB Carrot Broth™ for the rapid intrapartum detection of group B streptococcus colonization

Deirdre Leigh Church, Heather Baxter, Tracie Lloyd, Beverley Miller, Daniel B. Gregson

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2011

Language:

english

File:

PDF, 127 KB

english, 2011

18

Measurement of alpha-galactosidase activity in dry blood spots; detection of Fabry female heterozygotes

Parkes, Oliver, Church, Heather, Tylee, Karen

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

19

The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease

Broomfield, Alexander, Davison, James, Fletcher, Joan, Finnegan, Niamh, Wood, Michelle, Hensman, Pauline, Clare, Beesley, Church, Heather, Tylee, Karen, Burke, Derek, Fenton, Matthew, Champion, Michae

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 80 KB

english, 2015

20

Prediction of CRIM status in Pompe disease using cultured chorionic villi

Church, Heather J., Egerton, Christine, Parkes, Oliver, Tylee, Karen L., Jones, Simon A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

21

Molecular Cytogenetics Using Linked-Reads

Church, Deanna M., Jabara, Cassandra, Kyriazopoulou-Panagiotopoulou, Sofia, Collins, Ryan, Xu, Andrew Wei, Giorda, Kristina, Ordonez, Heather, Heaton, Haynes, Pratt, Mark, Marks, Patrick, Hardenbol, P

Journal:

Cancer Genetics

Year:

2016

Language:

english

File:

PDF, 51 KB

english, 2016

22

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

Faller, Kiterie M. E., Ridyard, Alison E., GutierrezâQuintana, Rodrigo, Rupp, Angie, KunâRodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose

Journal:

Journal of Veterinary Internal Medicine

Year:

2020

File:

PDF, 3.78 MB

2020

23

Technical difficulties in the diagnosis of Krabbe leucodystrophy by enzyme analysis

Hutchin, Tim, Terry, Fionnuala, Santra, Saikat, Egerton, Christine, Church, Heather, Preece, Mary Anne

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 59 KB

english, 2016

24

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres

Ghosh, Arunabha, Miller, Weston, Orchard, Paul J., Jones, Simon A., Mercer, Jean, Church, Heather J., Tylee, Karen, Lund, Troy, Bigger, Brian W., Tolar, Jakub, Wynn, Robert F.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 516 KB

english, 2016

25

Newborn screening for mucopolysaccharidoses: A pilot study of 2,640 samples

Kubaski, Francyne, Mason, Robert W., Giugliani, Roberto, Hanai, Junji, Xie, Li, van Vlies, Naomi N., Church, Heather, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Tadao, Montano, Adriana M., Tomatsu, Shu

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 49 KB

english, 2016

26

SPIE Proceedings [SPIE Optics East - Philadelphia, PA (Monday 25 October 2004)] Lab-on-a-Chip: Platforms, Devices, and Applications - Laser-machined microfluidic bioreactors with printed scaffolds and integrated optical waveguides

Nguyen, Michael N., Smith, Linda A., Sobek, Daniel, Fahlenkamp, Heather D., Higbee, Russell G., Kachurin, Anatoly M., Church, Kenneth H., Warren, William L.

Year:

2004

Language:

english

File:

PDF, 389 KB

english, 2004

27

Glycosaminoglycan levels in dried blood spots of patients with mucopolyasccharidoses and mucolipidoses

Kubaski, Francyne, Suzuki, Yasuyuki, Orii, Kenji, Giugliani, Roberto, Church, Heather, Mason, Robert W., Dũng, Vũ C., Ngoc, Can T.B., Yamaguchi, Seiji, Kobayashi, Hironori, Girisha, K.M., Fukao, Toshi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

28

A Decade of Low Transplant-Related Morbidity and Mortality in Children with Inherited Metabolic Diseases: A Report From a Single Metabolic Transplant Centre in the Europe

Lum, Su Han, Will, Andrew, Bonney, Denise, Hiwarkar, Prashant, Poulton, Kay, Church, Heather, Wraith, Ed, Jones, Simon A., Wynn, Robert F.

Journal:

Biology of Blood and Marrow Transplantation

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

29

Binding of lead to a metallothionein-like protein in human erythrocytes

Heather J. Church, J.Philip Day, Robin A. Braithwaite, Stanley S. Brown

Journal:

Journal of Inorganic Biochemistry

Year:

1993

Language:

english

File:

PDF, 776 KB

english, 1993

30

Serum HCII-T and urinary DS:CS ratio are both predictive biomarkers of treatment outcome in patients with MPS I, II and VI

Brian Bigger, Kia Langford-Smith, Jean Mercer, June Petty, Karen Tylee, Heather Church, Jane Roberts, Gill Moss, Simon Jones, Rob Wynn, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

31

Investigation of a Streptococcus viridans Pseudobacteremia Epidemic at a University Teaching Hospital

Deirdre L. Church and Heather E. Bryant

Journal:

Infection Control and Hospital Epidemiology

Year:

1989

Language:

english

File:

PDF, 1.05 MB

english, 1989

32

IMPROVEMENTS IN PSYCHOSOCIAL FUNCTIONING AND HEALTH-RELATED QUALITY OF LIFE FOLLOWING EXERCISE AUGMENTATION IN PATIENTS WITH TREATMENT RESPONSE BUT NONREMITTED MAJOR DEPRESSIVE DISORDER: RESULTS FROM THE TREAD STUDY

Greer, Tracy L., Trombello, Joseph M., Rethorst, Chad D., Carmody, Thomas J., Jha, Manish K., Liao, Allen, Grannemann, Bruce D., Chambliss, Heather O., Church, Timothy S., Trivedi, Madhukar H.

Journal:

Depression and Anxiety

Year:

2016

Language:

english

File:

PDF, 589 KB

english, 2016

33

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Kubaski, Francyne, Mason, Robert W, Nakatomi, Akiko, Shintaku, Haruo, Shintaku, Haruo, Xie, Li, van Vlies, Naomi N., Church, Heather, Giugliani, Roberto, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

34

Validation of ELISA and cellular uptake inhibition assays to detect and quantify antibodies raised against sebelipase alfa in lysosomal acid lipase deficiency

Church, Heather, Brammeier, Kathryn L., Broomfield, Alex, Ghosh, Arunabha, Jones, Simon, Tylee, Karen

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 322 KB

english, 2020

35

Case report of the first patient treated with ex-vivo autologous haematopoietic stem cell gene therapy transplant in mucopolysaccharidosis type IIIA

Kinsella, Jane Louise, Church, Heather, Ogden, Wendy, Jones, Ceri, Buckland, Karen, Rivat, Christine, Thrasher, Adrian, Snell, Katie, Leon-Rico, Diego, Vaz, Fred, Wijburg, Frits, Jones, Simon, Bigger,

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 327 KB

english, 2020

36

30. Curation of genetic variants in childhood cancers within the Clinical Genome Resource (ClinGen)

Lin, Wan-Hsin, Roy, Angshumoy, Church, Alanna, Rao, Shruti, Ritter, Deborah, Danos, Arpad, Krysiak, Kilannin, Corson, Laura, Fisher, Kevin, Williams, Heather, Hiemenz, Matthew, Janeway, Katherine, Ji,

Journal:

Cancer Genetics

Year:

2020

File:

PDF, 47 KB

2020

37

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W

Journal:

American Journal of Gastroenterology

Year:

2015

Language:

english

File:

PDF, 465 KB

english, 2015

38

Social Presence Diminishes Contagious Yawning in the Laboratory

Gallup, Andrew, Church, Allyson M., Miller, Heather, Risko, Evan F., Kingstone, Alan

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 365 KB

english, 2016

39

Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I

Liao, Ai Yin, Ghosh, Arunabha, O'Leary, Claire, Mercer, Jean, Church, Heather J., Tylee, Karen L., Goenka, Anu, Holley, Rebecca, Wynn, Robert F., Jones, Simon A., Bigger, Brian W.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

40

Evaluation of sequential testing strategies using non-amplified and amplified methods for detection of Chlamydia trachomatis in endocervical and urine specimens from women

Heather Semeniuk, Ali Zentner, Ron Read, Deirdre Church

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

41

Mutation analysis in mucopolysaccharidosis IVA

Tylee, Karen, Booth, Kathryn, Church, Heather

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

42

19. Carrier testing for MPS I and mucolipidosis II in the IrishTravelling Community

Karthryn Booth, Karen Tylee, Heather Church, Fiona Stuart, Alan Cooper

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

43

Prognostic utility of rapid leucocyte-based assay of α-glucosidase cross-reactive immunological material (CRIM) patterns in patients with Pompe disease

Harvey, Katie, Davison, James, Broomfield, Alex, Cullen, Emmaline, Burke, Derek, Prunty, Helen, Cleary, Maureen, Church, Heather, Tylee, Karen, Heales, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 63 KB

english, 2015

44

Enabling More Complete Genome Analysis Using 10x Linked-Reads

Jabara, Cassandra B., Ordonez, Heather, Giorda, Kristina, Yousif, Issa, Church, Deanna M., Schnall-Levin, Michael

Journal:

Cancer Genetics

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

45

Evaluation of a Candida Antigen Detection Method (Cand-Tec): Experience from a University Teaching Hospital

Anderson, Todd J, Bryant, Heather E, Church, Deirdre L

Journal:

Canadian Journal of Infectious Diseases

Year:

1992

Language:

english

File:

PDF, 4.33 MB

english, 1992

46

BeWo choriocarcinoma cells produce laminin 10

CHURCH, Heather J., APLIN, John D.

Journal:

Biochemical Journal

Year:

1998

Language:

english

File:

PDF, 323 KB

english, 1998

47

The lysosomal disease caused by mutant VPS33A

Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M

Journal:

Human Molecular Genetics

Year:

2019

Language:

english

File:

PDF, 36.27 MB

english, 2019

48

Core Psychiatry || Anxiety disorders

Church, Heather A.

Year:

2012

File:

PDF, 331 KB

2012

49

Fucosidosis: the UK experience reflecting the natural history of this rare disorder

Jameson, Elisabeth, Breen, Catherine, Broomfield, Alexander, Santra, Saikat, Pierre, Germaine, Lachmann, Robin, Stewart, Fiona, Tylee, Karen, Church, Heather, Vellodi, Ashok, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014

50

The majority of MPS I patients tested raise inhibitory allo-antibodies against enzyme replacement therapy

Saif, Muhammad, Brookes, Karen E., Mercer, Jean, Tylee, Karen L., Church, Heather J., Bonney, Denise K., Jones, Simon, Wraith, J. Ed, Wynn, Robert F., Bigger, Brian W.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

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@1delivery.pm

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