VAMP7 modulates ciliary biogenesis in kidney cells.

by Christina M Szalinski, Anatália Labilloy, Jennifer R Bruns, Ora A Weisz
Published 2014-01-01

Podocitúria na doença de Fabry

by Ester Miranda Pereira, Adalberto Socorro da Silva, Anatália Labilloy, José Tiburcio do Monte Neto, Semiramis Jamil Hadad do Monte
Published 2016-03-01

CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M)

by Ester Miranda Pereira, Adalberto Socorro da Silva, Raimundo Nonato da Silva, José Tiburcio Monte Neto, Fernando F. do Nascimento, Jackeline L. M. Sousa, Henrique César Saraiva de Arêa Leão Costa Filho, Herton Luiz Alves Sales Filho, Anatalia Labilloy, Semiramis Jamil Hadad do Monte
Published 2018-06-01

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]

by Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Published 2018-04-01