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Displaying 3 results.

- Dissertation
Association of Variants in CELSR1 and HGF Genes with Primary Lymphoedema
Alpaslan, Murat[UCL] (2023)
- Journal article
Ureteropelvic junction obstruction with primary lymphoedema associated with<i>CELSR1</i>variants
Alpaslan, Murat[UCL] Mestré-Godin, Sandrine Lay, Aurélie Giacalone, Guido[UCL] Helaers, Raphaël[UCL] Adham, Salma[UCL] Kovacsik, Hélène Guillemard, Sophie Mercier, Erick Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Brouillard, Pascal[UCL] Quere, Isabelle Vikkula, Miikka[UCL] (2023) Journal of Medical Genetics — Vol. x, no.x, p. jmg-2023-109171 (2023)
- Journal article
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)