1. Chromosome microarray analysis: A soothing guide. (24th March 2018) Authors: Ronan, Anne Journal: Journal of paediatrics and child health Issue: Volume 54:Number 6(2018:Jun.) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Co-occurrence of cadasil and a parkinsonian syndrome: a report of two cases and review of the literature. Issue 5 (8th May 2017) Authors: Murray, Natalia; Pepper, Elizabeth; Blackie, Jeff; Ronan, Anne; Sugo, Ella Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88:Issue 5(2017) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. Issue 7 (19th January 2007) Authors: Ronan, Anne; Fagan, Kerry; Christie, Louise; Conroy, Jeffrey; Nowak, Norma J; Turner, Gillian Journal: Journal of medical genetics Issue: Volume 44:Issue 7(2007) Page Start: 448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic Basis of Childhood Cardiomyopathy. (11th October 2022) Authors: Bagnall, Richard D.; Singer, Emma S.; Wacker, Julie; Nowak, Natalie; Ingles, Jodie; King, Ingrid; Macciocca, Ivan; Crowe, Joshua; Ronan, Anne; Weintraub, Robert G.; Semsarian, Christopher Journal: Circulation Issue: Volume 15:Number 6(2022) Page Start: e003686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Issue 2 (12th January 2012) Authors: Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic. Issue 3 (1st November 2021) Authors: Anning, Rebecca; Huang, Johnson; Ronan, Anne; de Malmanche, Jillian; Asher, Rebecca; Low, Tsu‐Hui (Hubert) Journal: ANZ journal of surgery Issue: Volume 92:Issue 3(2022) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. Issue 1 (23rd October 2010) Authors: Maupetit-Méhouas, Stéphanie; Mariot, Virginie; Reynès, Christelle; Bertrand, Guylène; Feillet, Francois; Carel, Jean-Claude; Simon, Dominique; Bihan, Hélène; Gajdos, Vincent; Devouge, Eve; Shenoy, Savitha; Agbo-Kpati, Placide; Ronan, Anne; Naud-Saudreau, Catherine; Lienhardt, Anne; Silve, Carolin... Journal: Journal of medical genetics Issue: Volume 48:Issue 1(2011) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. Issue 7 (12th May 2017) Authors: Ronan, Anne; Ingrey, Angela; Murray, Natalia; Chee, Paul Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1975 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗