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Affichage: 2 résultats.

- 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)
- Article de périodique
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
Alpaslan, Murat[UCL] Fastré, Elodie Mestre, Sandrine van Haeringen, Arie Repetto, Gabriela M Keymolen, Kathelijn Boon, Laurence M.[UCL] Belva, Florence Giacalone, Guido[UCL] Revencu, Nicole[UCL] Sznajer, Yves[UCL] Riches, Katie Keeley, Vaughan Mansour, Sahar Gordon, Kristiana Martin-Almedina, Silvia Dobbins, Sara Ostergaard, Pia Quere, Isabelle[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2024) Human Molecular Genetics — Vol. 33, no. 14, p. 1250-1261 (2024)