Genetic Basis of Childhood Cardiomyopathy
- Creator: Bagnall, Richard D. , Singer, Emma S. , Semsarian, Christopher , Wacker, Julie , Nowak, Natalie , Ingles, Jodie , King, Ingrid , Macciocca, Ivan , Crowe, Joshua , Ronan, Anne , Weintraub, Robert G.
- Resource Type: journal article
- Date: 2022
Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic
- Creator: Anning, Rebecca , Huang, Johnson , Ronan, Anne , de Malmanche, Jillian , Asher, Rebecca , Low, Tsu-Hui (Hubert)
- Resource Type: journal article
- Date: 2022
Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C
- Creator: Pelletier, Félixe , Perrier, Stefanie , Cayami, Ferdy K. , Mirchi, Amytice , Saikali, Sstephan , Tran, Luan T. , Ulrick, N , Guerrero, Kether , Rampakakis, Emmanouil , van Spaendonk, Rosalina M. L. , Naidu, Sakkubai , Pohl, Daniela , Gibson, William T. , Demos, Michelle , Goizet, Cyril , Tejera-Martin, Ingrid , Potic, Ana , Fogel, Brent L. , Brais, Bernard , Sylvain, Michel , Ronan, Anne , Van Spaendonk, RML
- Resource Type: journal article
- Date: 2021
Biallelic mutations in MTPAP associated with a lethal encephalopathy
- Creator: Van Eyck, Lien , Bruni, Francesco , Ronan, Anne , Briggs, Tracy A. , Roscioli, Tony , Rice, Gillian I. , Vassallo, Grace , Rodero, Mathieu P. , He, Langping , Taylor, Robert W. , Livingston, John H. , Chrzanowska-Lightowlers, Zofia M. A. , Crow, Yanick J.
- Resource Type: journal article
- Date: 2020
A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
- Creator: Kamien, Benjamin , Ronan, Anne , Poke, Gemma , Sinnerbrink, Ingrid , Baynam, Gareth , Ward, Michelle , Gibson, William T. , Dudding-Byth, Tracy , Scott, Rodney J.
- Resource Type: journal article
- Date: 2018
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
- Creator: Bagnall, Richard D. , Ingles, Jodie , Berman, Yemima , Ronan, Anne , Fatkin, Diane , Semsarian, Christopher , Dinger, Marcel E. , Cowley, Mark J. , Ross, Samantha Barratt , Minoche, André E. , Lal, Sean , Turner, Christian , Colley, Alison , Rajagopalan, Sulekha
- Resource Type: journal article
- Date: 2018
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
- Creator: Ronan, Anne , Ingrey, Angela , Murray, Natalia , Chee, Paul
- Resource Type: journal article
- Date: 2017
Diagnosis of pneumonia in children with dehydrating diarrhoea
- Creator: Saha, Debasish , Ronan, Anne , Khan, Wasif Ali , Salam, Mohammed Abdus
- Resource Type: journal article
- Date: 2014
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
- Creator: Maupetit-Méhouas, Stéphanie , Mariot, Virginie , Shenoy, Savitha , Agbo-Kpati, Placide , Ronan, Anne , Naud-Saudreau, Catherine , Lienhardt, Anne , Silve, Caroline , Linglart, Agnès , Reynès, Christelle , Bertrand, Guylène , Feillet, Francois , Carel, Jean-Claude , Simon, Dominique , Bihan, Hélène , Gajdos, Vincent , Devouge, Eve
- Resource Type: journal article
- Date: 2011
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
- Creator: Schönewolf-Greulich, Bitten , Ronan, Anne , Ravn, Kristine , Baekgaard, Peter , Lodahl, Marianne , Nielsen, Kate , Rendtorff, Nanna D. , Tranebjaerg, Lisbeth , Brøndum-Nielsen, Karen , Tümer, Zeynep
- Resource Type: journal article
- Date: 2011
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
- Creator: Ronan, Anne , Buiting, Karin , Dudding, Tracy
- Resource Type: journal article
- Date: 2008