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Affichage: 2 résultats.
    • Article de périodique
    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)
    • Article de périodique
    Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
    Ostergaard, Pia Simpson, Michael A Mendola, Antonella[UCL] Vasudevan, Pradeep Connell, Fiona C van Impel, Andreas Moore, Anthony T Loeys, Bart L Ghalamkarpour, Arash Onoufriadis, Alexandros Martinez-Corral, Ines Devery, Sophie Leroy, Jules G van Laer, Lut Singer, Amihood Bialer, Martin G McEntagart, Meriel Quarrell, Oliver Brice, Glen Trembath, Richard C Schulte-Merker, Stefan Makinen, Taija Vikkula, Miikka Mortimer, Peter S Mansour, Sahar Jeffery, Steve (2012) American journal of human genetics — Vol. 90, no.2, p. 356-62 (2012)