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Author/Creator Willems, P J

1. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). Issue 2 (February 1998)

Authors:
Lench, N J; Markham, A F; Mueller, R F; Kelsell, D P; Smith, R J; Willems, P J; Schatteman, I; Capon, H; Van De Heyning, P J; Van Camp, G
Journal:
Journal of medical genetics
Issue:
Volume 35:Issue 2(1998)
Page Start:
151
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. Issue 2 (1st February 2002)

Authors:
Balemans, W; Patel, N; Ebeling, M; Van Hul, E; Wuyts, W; Lacza, C; Dioszegi, M; Dikkers, F G; Hildering, P; Willems, P J; Verheij, J B G M; Lindpaintner, K; Vickery, B; Foernzler, D; Van Hul, W
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 2(2002)
Page Start:
91
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. Issue 6 (1st June 1999)

Authors:
Coucke, P J; Van Hauwe, P; Everett, L A; Demirhan, O; Kabakkaya, Y; Dietrich, N L; Smith, R J H; Coyle, E; Reardon, W; Trembath, R; Willems, P J; Green, E D; Van Camp, G
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 6(1999)
Page Start:
475
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. Issue 5 (9th September 2005)

Authors:
Hoornaert, K P; Dewinter, C; Vereecke, I; Beemer, F A; Courtens, W; Fryer, A; Fryssira, H; Lees, M; Müllner-Eidenböck, A; Rimoin, D L; Siderius, L; Superti-Furga, A; Temple, K; Willems, P J; Zankl, A; Zweier, C; De Paepe, A; Coucke, P; Mortier, G R
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
406
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗