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Author/Creator Trembath, R

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. Issue 2 (February 1997)

Authors:
Gausden, E; Coyle, B; Armour, J A; Coffey, R; Grossman, A; Fraser, G R; Winter, R M; Pembrey, M E; Kendall-Taylor, P; Stephens, D; Luxon, L M; Phelps, P D; Reardon, W; Trembath, R
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 2(1997)
Page Start:
126
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. S107 Genotype-phenotype associations in pulmonary arterial hypertension caused by BMPR2 and EIF2AK4 variants. (15th November 2016)

Authors:
Hadinnapola, C; Haimel, M; Bleda, M; Bogaard, H; Coghlan, G; Corris, P; Gibbs, S; Kiely, D; Lawrie, A; Peacock, A; Pepke-Zaba, J; Southgate, L; Toshner, M; Trembath, R; Noordegraaf, A Vonk; Wharton, J; Wilkins, M; Wort, SJ; Graf, S; Morrell, NM
Journal:
Thorax
Issue:
Volume 71(2016)Supplement 3
Page Start:
A63
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. S108 Genome-wide association study in chronic thromboembolic pulmonary hypertension reveals new insights into aetiology. (15th November 2017)

Authors:
Newnham, M; Toshner, M; Bleda, M; Auger, WR; Barberà, JA; Bogaard, HJ; Cannon, J; Coghlan, G; Corris, PA; Delcroix, M; Dunning, J; Elding, H; Gibbs, S; Hadinnapola, C; Jenkins, D; Kiely, D; Lang, I; Maher, E; Ng, C; Peacock, A
Journal:
Thorax
Issue:
Volume 72(2017)Supplement 3
Page Start:
A66
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. Issue 2 (2nd February 2005)

Authors:
Bond, J; Flintoff, K; Higgins, J; Scott, S; Bennet, C; Parsons, J; Mannon, J; Jafri, H; Rashid, Y; Barrow, M; Trembath, R; Woodruff, G; Rossa, E; Lynch, S; Sheilds, J; Newbury-Ecob, R; Falconer, A; Holland, P; Cockburn, D; Karbani, G
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 2(2005)
Page Start:
e10
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗