 | Up a level |
2019
Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian
(2019).
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am. J. Hum. Genet., 105 (4).
S. 836 - 844.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2014
Dasgupta, Debayan ORCID: 0000-0002-1064-0541, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew ORCID: 0000-0002-3443-9359, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl ORCID: 0000-0001-6973-5679, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Saevendahl, Lars, Munns, Craig F., Lee, Hang, Jueppner, Harald and Bergwitz, Clemens
(2014).
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis.
J. Am. Soc. Nephrol., 25 (10).
S. 2366 - 2376.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450