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Author/Creator Hamel, B

1. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. Issue 11 (19th November 2003)

Authors:
Beltrán-Valero de Bernabé, D; van Bokhoven, H; van Beusekom, E; Van den Akker, W; Kant, S; Dobyns, W B; Cormand, B; Currier, S; Hamel, B; Talim, B; Topaloglu, H; Brunner, H G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 11(2003)
Page Start:
845
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21. Issue 5 (20th May 2005)

Authors:
Ali, M; Highet, L J; Lacombe, D; Goizet, C; King, M D; Tacke, U; van der Knaap, M S; Lagae, L; Rittey, C; Brunner, H G; van Bokhoven, H; Hamel, B; Oade, Y A; Sanchis, A; Desguerre, I; Cau, D; Mathieu, N; Moutard, M L; Lebon, P; Kumar, D
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
444
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Issue 7 (3rd May 2013)

Authors:
van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 7(2013)
Page Start:
463
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗