Clinical utility gene card for: Biotinidase deficiency

Por Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry
Publicado em 2012

Clinical utility gene card for: Biotinidase deficiency—update 2015

Por Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry
Publicado no Eur J Hum Genet (2016)

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome

Por Ramaekers, Vincent T, Sequeira, Jeffrey M, Blau, Nenad, Quadros, Edward V
Publicado em 2008

Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome

Por Bonkowsky, Joshua L., Ramaekers, Vincent T., Quadros, Edward V., Lloyd, Michael
Publicado no J Child Neurol (2008)

Paraspinal Arterio-Venous Fistula in Children: Two More Cases of an Exceptional Malformation

Por Farhat, Nesrine, Desprechins, Brigitte, Otto, Bernard, Ramaekers, Vincent, Seghaye, Marie-Christine
Publicado no Clin Pract (2015)

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Por Scholl, Ute I., Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T., Häusler, Martin G., Grimmer, Joanne, Tobe, Sheldon W., Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P.
Publicado em 2009

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Por Adamsen, Dea, Ramaekers, Vincent, Ho, Horace TB, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Walitza, Susanne, Wang, Joanne, Grünblatt, Edna, Thöny, Beat
Publicado no Mol Autism (2014)

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Por Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Publicado no Am J Hum Genet (2015)