User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 3 results.
    • Journal article
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
    Szafranski, Przemyslaw Gambin, Tomasz Dharmadhikari, Avinash V Akdemir, Kadir Caner Jhangiani, Shalini N Schuette, Jennifer Godiwala, Nihal Yatsenko, Svetlana A Sebastian, Jessica Madan-Khetarpal, Suneeta Surti, Urvashi Abellar, Rosanna G Bateman, David A Wilson, Ashley L Markham, Melinda H Slamon, Jill Santos-Simarro, Fernando Palomares, María Nevado, Julián Lapunzina, Pablo Chung, Brian Hon-Yin Wong, Wai-Lap Chu, Yoyo Wing Yiu Mok, Gary Tsz Kin Kerem, Eitan Reiter, Joel Ambalavanan, Namasivayam Anderson, Scott A Kelly, David R Shieh, Joseph Rosenthal, Taryn C Scheible, Kristin Steiner, Laurie Iqbal, M Anwar McKinnon, Margaret L Hamilton, Sara Jane Schlade-Bartusiak, Kamilla English, Dawn Hendson, Glenda Roeder, Elizabeth R DeNapoli, Thomas S Littlejohn, Rebecca Okashah Wolff, Daynna J Wagner, Carol L Yeung, Alison Francis, David Fiorino, Elizabeth K Edelman, Morris Fox, Joyce Hayes, Denise A Janssens, Sandra De Baere, Elfride Menten, Björn Loccufier, Anne Vanwalleghem, Lieve Moerman, Philippe Sznajer, Yves[UCL] Lay, Amy S Kussmann, Jennifer L Chawla, Jasneek Payton, Diane J Phillips, Gael E Brosens, Erwin Tibboel, Dick de Klein, Annelies Maystadt, Isabelle Fisher, Richard Sebire, Neil Male, Alison Chopra, Maya Pinner, Jason Malcolm, Girvan Peters, Gregory Arbuckle, Susan Lees, Melissa Mead, Zoe Quarrell, Oliver Sayers, Richard Owens, Martina Shaw-Smith, Charles Lioy, Janet McKay, Eileen de Leeuw, Nicole Feenstra, Ilse Spruijt, Liesbeth Elmslie, Frances Thiruchelvam, Timothy Bacino, Carlos A Langston, Claire Lupski, James R Sen, Partha Popek, Edwina Stankiewicz, Paweł (2016) Human Genetics — Vol. 135, no.5, p. 569-586 (2016)
    • Journal article
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
    Chen, Yuyang Dawes, Ruebena Kim, Hyung Chul Ljungdahl, Alicia Stenton, Sarah L Walker, Susan Lord, Jenny Lemire, Gabrielle Martin-Geary, Alexandra C Ganesh, Vijay S Ma, Jialan Ellingford, Jamie M Delage, Erwan D'Souza, Elston N Dong, Shan Adams, David R Allan, Kirsten Bakshi, Madhura Baldwin, Erin E Berger, Seth I Bernstein, Jonathan A Bhatnagar, Ishita Blair, Ed Brown, Natasha J Burrage, Lindsay C Chapman, Kimberly Coman, David J Compton, Alison G Cunningham, Chloe A D'Souza, Precilla Danecek, Petr Délot, Emmanuèle C Dias, Kerith-Rae Elias, Ellen R Elmslie, Frances Evans, Care-Anne Ewans, Lisa Ezell, Kimberly Fraser, Jamie L Gallacher, Lyndon Genetti, Casie A Goriely, Anne Grant, Christina L Haack, Tobias Higgs, Jenny E Hinch, Anjali G Hurles, Matthew E Kuechler, Alma Lachlan, Katherine L Lalani, Seema R Lecoquierre, François Leitão, Elsa Fevre, Anna Le Leventer, Richard J Liebelt, Jan E Lindsay, Sarah Lockhart, Paul J Ma, Alan S Macnamara, Ellen F Mansour, Sahar Maurer, Taylor M Mendez, Hector R Metcalfe, Kay Montgomery, Stephen B Moosajee, Mariya Nassogne, Marie-Cécile Neumann, Serena O'Donoghue, Michael O'Leary, Melanie Palmer, Elizabeth E Pattani, Nikhil Phillips, John Pitsava, Georgia Pysar, Ryan Rehm, Heidi L Reuter, Chloe M Revencu, Nicole[UCL] Riess, Angelika Rius, Rocio Rodan, Lance Roscioli, Tony Rosenfeld, Jill A Sachdev, Rani Shaw-Smith, Charles J Simons, Cas Sisodiya, Sanjay M Snell, Penny St Clair, Laura Stark, Zornitza Stewart, Helen S Tan, Tiong Yang Tan, Natalie B Temple, Suzanna E L Thorburn, David R Tifft, Cynthia J Uebergang, Eloise VanNoy, Grace E Vasudevan, Pradeep Vilain, Eric Viskochil, David H Wedd, Laura Wheeler, Matthew T White, Susan M Wojcik, Monica Wolfe, Lynne A Wolfenson, Zoe Wright, Caroline F Xiao, Changrui Zocche, David Rubenstein, John L Markenscoff-Papadimitriou, Eirene Fica, Sebastian M Baralle, Diana Depienne, Christel MacArthur, Daniel G Howson, Joanna M M Sanders, Stephan J O'Donnell-Luria, Anne Whiffin, Nicola (2024) Nature — Vol. 632, no.8026, p. 832-840 (2024)
    • Journal article
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Banka, Siddharth Veeramachaneni, Ratna Reardon, William Howard, Emma Bunstone, Sancha Ragge, Nicola Parker, Michael J Crow, Yanick J Kerr, Bronwyn Kingston, Helen Metcalfe, Kay Chandler, Kate Magee, Alex Stewart, Fiona McConnell, Vivienne P M Donnelly, Deirdre E Berland, Siren Houge, Gunnar Morton, Jenny E Oley, Christine Revencu, Nicole[UCL] Park, Soo-Mi Davies, Sally J Fry, Andrew E Lynch, Sally Ann Gill, Harinder Schweiger, Susann Lam, Wayne W K Tolmie, John Mohammed, Shehla N Hobson, Emma Smith, Audrey Blyth, Moira Bennett, Christopher Vasudevan, Pradeep C García-Miñaúr, Sixto Henderson, Alex Goodship, Judith Wright, Michael J Fisher, Richard Gibbons, Richard Price, Susan M C de Silva, Deepthi Temple, I Karen Collins, Amanda L Lachlan, Katherine Elmslie, Frances McEntagart, Meriel Castle, Bruce Clayton-Smith, Jill Black, Graeme C Donnai, Dian (2012) European Journal of Human Genetics — Vol. 20, no.4, p. 381-388 (2011)