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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
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
    Tessadori, Federico Duran, Karen Knapp, Karen Fellner, Matthias Deciphering Developmental Disorders Study Smithson, Sarah Beleza Meireles, Ana Elting, Mariet W Waisfisz, Quinten O'Donnell-Luria, Anne Nowak, Catherine Douglas, Jessica Ronan, Anne Brunet, Theresa Kotzaeridou, Urania Svihovec, Shayna Saenz, Margarita S Thiffault, Isabelle Del Viso, Florencia Devine, Patrick Rego, Shannon Tenney, Jessica van Haeringen, Arie Ruivenkamp, Claudia A L Koene, Saskia Robertson, Stephen P Deshpande, Charulata Pfundt, Rolph Verbeek, Nienke van de Kamp, Jiddeke M Weiss, Janneke M M Ruiz, Anna Gabau, Elisabeth Banne, Ehud Pepler, Alexander Bottani, Armand Laurent, Sacha Guipponi, Michel Bijlsma, Emilia Bruel, Ange-Line Sorlin, Arthur Willis, Mary Powis, Zoe Smol, Thomas Vincent-Delorme, Catherine Baralle, Diana Colin, Estelle Revencu, Nicole[UCL] Calpena, Eduardo Wilkie, Andrew O M Chopra, Maya Cormier-Daire, Valerie Keren, Boris Afenjar, Alexandra Niceta, Marcello Terracciano, Alessandra Specchio, Nicola Tartaglia, Marco Rio, Marlene Barcia, Giulia Rondeau, Sophie Colson, Cindy Bakkers, Jeroen Mace, Peter D Bicknell, Louise S van Haaften, Gijs (2022) American journal of human genetics — Vol. 109, no. 4, p. 750-758 (2022)