Janice K. Fletcher: search on Z-Library

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101

Ensuring clinical validity - modernising genetic testing services

Kassahn, Karin S., Scott, Hamish S., Fletcher, Janice M.

Journal:

Year:

2014

Language:

english

File:

PDF, 35 KB

english, 2014

102

Isolated autism is not an indication for SLO testing

Kaub, Peter A., Sharp, Peter C., Fletcher, Janice M.

Journal:

Year:

2014

Language:

english

File:

PDF, 41 KB

english, 2014

103

Arrays: has the time come for haematological malignancy?

Kaub, Peter A., Fletcher, Janice M., Moore, Sarah

Journal:

Year:

2015

Language:

english

File:

PDF, 39 KB

english, 2015

104

Dietary Carbohydrate Restriction Is Necessary For High-Fat Diet Induced Alterations In Substrate Oxidation During Exercise

Fletcher, Gareth, Glover, Elisa I., Thompson, Janice L., Wallis, Gareth A.

Journal:

Medicine & Science in Sports & Exercise

Year:

2017

Language:

english

File:

PDF, 227 KB

english, 2017

105

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Talbot, Andrew, Nicholls, Kathy, Fletcher, Janice M., Fuller, Maria

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

106

Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice

Jiang, Zhirui, Derrick-Roberts, Ainslie L.K., Jackson, Matilda R., Rossouw, Charné, Pyragius, Carmen E., Xian, Cory, Fletcher, Janice, Byers, Sharon

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 2.93 MB

english, 2018

107

Radiotherapy review for patients with breast cancer: a new approach

Fletcher, Janice, Hornsby, Carole

Journal:

Cancer Nursing Practice

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

108

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Saville, Jennifer T., McDermott, Belinda K., Fletcher, Janice M., Fuller, Maria

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 266 KB

english, 2018

109

014 The diagnostic odyssey for fabry disease: ten years experience in testing

Dobbins, Julia, Fuller, Maria, Pyragius, Tim, Brion, Kristian, Chin, Sharon, Gurner, Melissa, Pacyna, Janina, Stark, Samantha, Fletcher, Janice M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 50 KB

english, 2018

110

112 Blood spot testing for late onset pompe disease

Dobbins, Julia, Pyragius, Tim, Brion, Kristian, Chin, Sharon, Gurner, Melissa, Pacyna, Janina, Stark, Samantha, Fletcher, Janice M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

111

Relapsing necrotising encephalomyelopathy due to RANBP2 mutation

Kelly, Erin, Harvey, Jackson, Brion, Kristian, Fletcher, Janice, Slee, Mark

Journal:

Practical Neurology

Year:

2019

Language:

english

File:

PDF, 321 KB

english, 2019

112

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, JeanâFrancois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette

Journal:

Year:

2020

File:

PDF, 952 KB

2020

113

Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening

Mordaunt, Dylan A., Button, Emily, Hardy, Tristan, Dubowsky, Andrew, Holloway, Mark, Schenscher, Sarah, Bratkovic, Drago, Fletcher, Janice

Journal:

Year:

2020

File:

PDF, 36 KB

2020

114

Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis

Hong, Lih En, Phillips, Liza K, Fletcher, Janice, Limaye, Vidya S

Journal:

Year:

2020

File:

PDF, 308 KB

2020

115

Inherited metabolic diseases: beyond newborn screening

Leonard, Helen M, Fletcher, Janice M

Journal:

The Medical Journal of Australia

Year:

1999

File:

PDF, 753 KB

1999

116

Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses

Derrick-Roberts, Ainslie, Kaidonis, Xenia, Jackson, Matilda R., Liaw, Wan Chin, Ding, XiaoDan, Ong, Chun, Ranieri, Enzo, Sharp, Peter, Fletcher, Janice, Byers, Sharon

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.21 MB

2020

117

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria

Journal:

Year:

2020

File:

PDF, 1000 KB

2020