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Displaying 3 results.
    • Journal article
    Characterization of ANGPT2 mutations associated with primary lymphedema
    Leppänen, Veli-Matti Brouillard, Pascal[UCL] Korhonen, Emilia A Sipilä, Tuomas Jha, Sawan Kumar Revencu, Nicole[UCL] Labarque, Veerle Fastré, Elodie[UCL] Schlögel, Matthieu[UCL] Ravoet, Marie[UCL] Singer, Amihood Luzzatto, Claudia Angelone, Donatella Crichiutti, Giovanni D'Elia, Angela Kuurne, Jaakko Elamaa, Harri Koh, Gou Young Saharinen, Pipsa Vikkula, Miikka[UCL] Alitalo, Kari (2020) Science translational medicine — Vol. 12, no. 560, p. eaax8013 [1-11] (2020)
    • Journal article
    Further delineation of the KAT6B molecular and phenotypic spectrum
    Gannon, Tamsin Perveen, Rahat Schlecht, Hélene Ramsden, Simon Anderson, Beverley Kerr, Bronwyn Day, Ruth Banka, Siddharth Suri, Mohnish Berland, Siren Gabbett, Michael Ma, Alan Lyonnet, Stan Cormier-Daire, Valerie Yilmaz, Rüstem Borck, Guntram Wieczorek, Dagmar Anderlid, Britt-Marie Smithson, Sarah Vogt, Julie Moore-Barton, Heather Simsek-Kiper, Pelin Ozlem Maystadt, Isabelle Destrée, Anne Bucher, Jessica Angle, Brad Mohammed, Shehla Wakeling, Emma Price, Sue Singer, Amihood Sznajer, Yves[UCL] Toutain, Annick Haye, Damien Newbury-Ecob, Ruth Fradin, Melanie McGaughran, Julie Tuysuz, Beyhan Tein, Mark Bouman, Katelijne Dabir, Tabib Van den Ende, Jenneke Luk, Ho Ming Pilz, Daniela T Eason, Jacqueline Davies, Sally Reardon, Willie Garavelli, Livia Zuffardi, Orsetta Devriendt, Koen Armstrong, Ruth Johnson, Diana Doco-Fenzy, Martine Bijlsma, Emilia Unger, Sheila Veenstra-Knol, Hermine E Kohlhase, Jürgen Lo, Ivan F M Smith, Janine Clayton-Smith, Jill (2015) European Journal of Human Genetics — Vol. 23, no. 9, p. 1165-1170 (2015)
    • Journal article
    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)