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
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
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