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Author/Creator Marlin, S

1. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. Issue 7 (1st July 2005)

Authors:
del Castillo, F J; Rodríguez-Ballesteros, M; Álvarez, A; Hutchin, T; Leonardi, E; de Oliveira, C A; Azaiez, H; Brownstein, Z; Avenarius, M R; Marlin, S; Pandya, A; Shahin, H; Siemering, K R; Weil, D; Wuyts, W; Aguirre, L A; Martín, Y; Moreno-Pelayo, M A; Villamar, M; Avraham, K B
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 7(2005)
Page Start:
588
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. Issue 4 (31st July 2005)

Authors:
Moore, A; Escudier, E; Roger, G; Tamalet, A; Pelosse, B; Marlin, S; Clément, A; Geremek, M; Delaisi, B; Bridoux, A-M; Coste, A; Witt, M; Duriez, B; Amselem, S
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 4(2006)
Page Start:
326
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. Issue 11 (1st November 2004)

Authors:
Keren, B; Hadchouel, A; Saba, S; Sznajer, Y; Bonneau, D; Leheup, B; Boute, O; Gaillard, D; Lacombe, D; Layet, V; Marlin, S; Mortier, G; Toutain, A; Beylot, C; Baumann, C; Verloes, A; Cavé, H
Other Names:
group-author.
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 11(2004)
Page Start:
e117
Record Type:
Journal Article
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4. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. Issue 9 (5th May 2006)

Authors:
Roux, A-F; Faugère, V; Le Guédard, S; Pallares-Ruiz, N; Vielle, A; Chambert, S; Marlin, S; Hamel, C; Gilbert, B; Malcolm, S; Claustres, M
Other Names:
group-author.
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 9(2006)
Page Start:
763
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗