Menu utilisateur

Accès à distance ? S'identifier sur le proxy UCLouvain

Rechercher

Affichage: 3 résultats.
    • Article de périodique
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
    Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves[UCL] Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride (2019) Genetics in medicine — Vol. 21, no.8, p. 1761-1771 (2019)
    • Article de périodique
    No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
    Schlögel, Matthieu[UCL] Mendola, Antonella[UCL] Fastre, Elodie[UCL] Vasudevan, Pradeep Devriendt, Koen de Ravel, Thomy Jl Van Esch, Hilde Casteels, Ingele Arroyo Carrera, Ignacio Cristofoli, Francesca Fieggen, Karen Jones, Katheryn Lipson, Mark Balikova, Irina Singer, Ami Soller, Maria Mercedes Villanueva, María Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 52 (2015)
    • Article de périodique
    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)