Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

por Katz, Jason, Labilloy, Anatalia, Lee, Andrew
Publicado 2022

VAMP7 Modulates Ciliary Biogenesis in Kidney Cells

por Szalinski, Christina M., Labilloy, Anatália, Bruns, Jennifer R., Weisz, Ora A.
Publicado 2014

Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism

por Cardenas, Juan, Cardenas, Jose, Lee, Andrew, Brown, Martha, Galan, Fernando, Scimeme, Jason, Labilloy, Anatalia
Publicado 2021

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

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

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

por Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Publicado 2018