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- Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, Charulata Deshpande, Pradeep Vasudevan, Ingrid Scurr, John Dean, Nora Shannon, Jonathon Berg, Susan Holder, Diana Baralle, Jill Clayton-SmithArchives of Disease in Childhood Apr 2020, 105 (4) 384-389; DOI: 10.1136/archdischild-2018-316547
- Joining the hidden revolution in rare diseases: working with family support groupsBrian T Wilson, Jayne HughesArchives of Disease in Childhood Feb 2020, 105 (2) 107-108; DOI: 10.1136/archdischild-2019-317227
- Professionals’ accounts of genetic testing in adoption: a qualitative studyMichael Arribas-Ayllon, Angus Clarke, Katherine SheltonArchives of Disease in Childhood Jan 2020, 105 (1) 74-79; DOI: 10.1136/archdischild-2019-316911
- Thyroid scintigraphy differentiates subtypes of congenital hypothyroidismChris Worth, Beverly Hird, Lesley Tetlow, Neville Wright, Leena Patel, Indraneel BanerjeeArchives of Disease in Childhood Nov 2019, archdischild-2019-317665; DOI: 10.1136/archdischild-2019-317665
- HLA-DQ2/DQ8 typing for non-biopsy diagnosis of coeliac disease: is it necessary?Siba Prosad Paul, Jagrati Chopra, Camelia Laura Vaina, Akshatha Mallikarjuna, Dharamveer BasudeArchives of Disease in Childhood Nov 2019, 104 (11) 1119-1120; DOI: 10.1136/archdischild-2019-317297
- Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?Katrina Andrews, Matina Prapa, Elizabeth Radford, Ingrid Simonic, Simon Holden, Gusztav BeltekiArchives of Disease in Childhood Sep 2019, archdischild-2019-317966; DOI: 10.1136/archdischild-2019-317966
- Cardiogenic shock and tako-tsubo cardiomyopathy in a 9-year-old girl with retroperitoneal paragangliomaJohanne Auriau, Ludovic Mansuy, Stéphanie DouchinArchives of Disease in Childhood Oct 2019, 104 (10) 988; DOI: 10.1136/archdischild-2018-315083
- Batten’s disease presenting as visual loss in twinsAmun Sachdev, Stephen ScotcherArchives of Disease in Childhood Sep 2019, 104 (9) 843; DOI: 10.1136/archdischild-2018-314911
- Gene therapy for beta-thalassaemiaArchives of Disease in Childhood Jul 2018, 103 (7) 684; DOI: 10.1136/archdischild-2018-315444
- Cost of exome sequencing in epileptic encephalopathy: is it ‘worth it’?Eva B Forman, Kathleen M Gorman, Judith Conroy, Neil Arthur, Ciara Grant, Sean Ennis, Nicholas M Allen, Sally Ann Lynch, Mary D KingArchives of Disease in Childhood Mar 2018, 103 (3) 304; DOI: 10.1136/archdischild-2017-313240
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