by Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Quinonez, Shane C., Regan, Brigid M., Ross, M. Elizabeth, Guillen Sacoto, Maria J., Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F., Rosenfeld, Jill A., Edmondson, Andrew C., Grunewald, Stephanie, Freeze, Hudson H.
Published in Human mutation (01.07.2019)

by Vals, Mari‐Anne, Ashikov, Angel, Ilves, Pilvi, Loorits, Dagmar, Zeng, Qiang, Barone, Rita, Huijben, Karin, Sykut‐Cegielska, Jolanta, Diogo, Luísa, Elias, Abdallah F., Greenwood, Robert S., Grunewald, Stephanie, van Hasselt, Peter M., van de Kamp, Jiddeke M., Mancini, Grazia, Okninska, Agnieszka, Pajusalu, Sander, Rudd, Pauline M., Rustad, Cecilie F., Salvarinova, Ramona, de Vries, Bert B.A., Wolf, Nicole I., Ng, Bobby G., Freeze, Hudson H., Lefeber, Dirk J., Õunap, Katrin
Published in Journal of inherited metabolic disease (01.05.2019)

by Zhen, Li, Chen, Gui‐Lan, Li, Yan‐Lin, Li, Dong‐Zhi
Published in Congenital anomalies (01.09.2022)

by Dörre, K., Olczak, M., Wada, Y., Sosicka, P., Grüneberg, M., Reunert, J., Kurlemann, G., Fiedler, B., Biskup, S., Hörtnagel, K., Rust, S., Marquardt, T.
Published in Journal of inherited metabolic disease (01.09.2015)

by Bruneel, Arnaud, Cholet, Sophie, Drouin‐Garraud, Valérie, Jacquemont, Marie‐Line, Cano, Aline, Mégarbané, André, Ruel, Coralie, Cheillan, David, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Seta, Nathalie, Fenaille, François
Published in Electrophoresis (01.12.2018)

by Okamoto, Nobuhiko, Kadoya, Machiko, Wada, Yoshinao
Published in JIMD reports (01.05.2025)

by Alsubhi, Sarah, Alhashem, Amal, Faqeih, Eissa, Alfadhel, Majid, Alfaifi, Abdullah, Altuwaijri, Waleed, Alsahli, Saud, Aldhalaan, Hesham, Alkuraya, Fowzan S., Hundallah, Khalid, Mahmoud, Adel, Alasmari, Ali, Mutairi, Fuad Al, Abduraouf, Hanem, AlRasheed, Layan, Alshahwan, Saad, Tabarki, Brahim
Published in American journal of medical genetics. Part A (01.10.2017)

by Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)

by Bruneel, Arnaud, Cholet, Sophie, Drouin-Garraud, Valérie, Jacquemont, Marie‐line, Cano, Aline, Mégarbané, André, Ruel, Coralie, Cheillan, David, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, Fenaille, François
Published in Electrophoresis (03.07.2018)