Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Natalie Grainger"'
Autor:
Stephanie Best, Elizabeth E Palmer, Lauren Kelada, Rani Sachdev, Eden G Robertson, I Goranitis, Natalie Grainger, Fleur Le Marne, Kristine Pierce, Suzanne M Nevin, Rebecca Macintosh, Erin Beavis, Annie Bye
Publikováno v:
BMJ Open, Vol 12, Iss 10 (2022)
Introduction Developmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate informati
Externí odkaz:
https://doaj.org/article/eeb167524d8c4a76ac03283cc48a346f
Autor:
Natalie Grainger, Gareth Baynam, Susan M. White, Tiffany Boughtwood, Margit Shah, Arthavan Selvanathan, Yemima Berman, Mary-Louise Freckmann, Edwin P. Kirk, Gayathri Parasivam, Alan Sl Ma, Rani Sachdev
Publikováno v:
Journal of Paediatrics and Child Health. 58:8-15
Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146e63823fdca3e8ac274301a152fd0f
https://doi.org/10.1111/jpc.15703
https://doi.org/10.1111/jpc.15703
Autor:
Tiffany Boughtwood, Gayathri Parasivam, Rani Sachdev, Michael Field, Sebastian Lunke, Jeffery Fletcher, Alan S L Ma, Maria Berarducci, Ben Lundie, Marie B Cusack, Edwin P. Kirk, Yemima Berman, Lesley M McGregor, Gareth Baynam, Natalie Grainger, John Beilby, Mary-Louise Freckmann, David Mowat, Vanessa Fitzgerald, Susan M. White, Mathew Wallis, Vanessa Tyrell
Publikováno v:
Journal of Paediatrics and Child Health
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f4d05bbe6ef5ca4b8a60025c1848ae4
https://doi.org/10.1111/jpc.15382
https://doi.org/10.1111/jpc.15382
Autor:
Eden G Robertson, Lauren Kelada, Stephanie Best, I Goranitis, Natalie Grainger, Fleur Le Marne, Kristine Pierce, Suzanne M Nevin, Rebecca Macintosh, Erin Beavis, Rani Sachdev, Annie Bye, Elizabeth E Palmer
Publikováno v:
BMJ Open. 12:e063249
IntroductionDevelopmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate informatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832da4657834cff76d283206a6c6b14f
https://doi.org/10.1136/bmjopen-2022-063249
https://doi.org/10.1136/bmjopen-2022-063249