A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
- Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.
- 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
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
- Ronan, Anne, Buiting, Karin, Dudding, Tracy
- Creator: Ronan, Anne , Buiting, Karin , Dudding, Tracy
- Resource Type: journal article
- Date: 2008
Biallelic mutations in MTPAP associated with a lethal encephalopathy
- 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.
- 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
Diagnosis of pneumonia in children with dehydrating diarrhoea
- Saha, Debasish, Ronan, Anne, Khan, Wasif Ali, Salam, Mohammed Abdus
- Creator: Saha, Debasish , Ronan, Anne , Khan, Wasif Ali , Salam, Mohammed Abdus
- Resource Type: journal article
- Date: 2014
Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C
- 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
- 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
- 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
Genetic Basis of Childhood Cardiomyopathy
- 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.
- 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
- Anning, Rebecca, Huang, Johnson, Ronan, Anne, de Malmanche, Jillian, Asher, Rebecca, Low, Tsu-Hui (Hubert)
- Creator: Anning, Rebecca , Huang, Johnson , Ronan, Anne , de Malmanche, Jillian , Asher, Rebecca , Low, Tsu-Hui (Hubert)
- Resource Type: journal article
- Date: 2022
- 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
- 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
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
- Ronan, Anne, Ingrey, Angela, Murray, Natalia, Chee, Paul
- Creator: Ronan, Anne , Ingrey, Angela , Murray, Natalia , Chee, Paul
- Resource Type: journal article
- Date: 2017
- Creator: Ronan, Anne , Ingrey, Angela , Murray, Natalia , Chee, Paul
- Resource Type: journal article
- Date: 2017
- Schönewolf-Greulich, Bitten, Ronan, Anne, Ravn, Kristine, Baekgaard, Peter, Lodahl, Marianne, Nielsen, Kate, Rendtorff, Nanna D., Tranebjaerg, Lisbeth, Brøndum-Nielsen, Karen, Tümer, Zeynep
- 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
- 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
- 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
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