Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Published in Orphanet journal of rare diseases (17.09.2012)
Published in Orphanet journal of rare diseases (17.09.2012)
Get full text
Journal Article
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Published in Orphanet journal of rare diseases (29.03.2022)
Published in Orphanet journal of rare diseases (29.03.2022)
Get full text
Journal Article
Screening behavior in women at increased familial risk for breast cancer
Antill, Yoland C, Reynolds, John, Young, Mary Anne, Kirk, Judy A, Tucker, Katherine M, Bogtstra, Tarli L, Wong, Shirley S, Dudding, Tracy E, Di Iulio, Juliana L, Phillips, Kelly-Anne
Published in Familial cancer (01.11.2006)
Published in Familial cancer (01.11.2006)
Get full text
Journal Article
Maternal factor V Leiden and adverse pregnancy outcome: deciding whether or not to test
Dudding, Tracy E, Attia, John
Published in The journal of maternal-fetal & neonatal medicine (01.07.2012)
Published in The journal of maternal-fetal & neonatal medicine (01.07.2012)
Get more information
Journal Article
RNA variant assessment using transactivation and transdifferentiation
Nicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Cooper, Sandra T., Lister, Ryan, Gecz, Jozef, Jolly, Lachlan A.
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
Get full text
Journal Article
RNA variant assessment using transactivation and transdifferentiation
Nicolas-Martinez, Emmylou C, Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A, Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L, Scheffer, Ingrid E, Hildebrand, Michael S, Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G, Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I, Evesson, Frances J, Jones, Kristi J, Azmanov, Dimitar N, Barnett, Christopher P, Barry, Simon C, Baynam, Gareth, Berkovic, Samuel F, Christodoulou, John, Coman, David J, Cooper, Sandra T, Delatycki, Martin, Dudding, Tracy E, Fletcher, Sue, Gardner, Alison E, Gecz, Jozef, Higgins, Megan J, Jolly, Lachlan A, Lister, Ryan, Mcgaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Scheffer, Ingrid, Scott, Hamish S., Sinclair, Andrew H, Spurdle, Amanda B, Tan, Tiong Y, Voineagu, Irina, Gecz, Jozef, Jolly, Lachlan A
Published in American journal of human genetics (25.07.2024)
Published in American journal of human genetics (25.07.2024)
Get full text
Journal Article