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Author/Creator Bocquet, Beatrice

1. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Issue 7 (14th April 2022)

Authors:
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català‐Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Gio...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
832
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Issue 1 (30th September 2019)

Authors:
Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catalá‐Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou‐Tzeli, Sofia; Matet, Alexandre; Martor...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
255
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Issue 8 (6th May 2019)

Authors:
Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia‐Sandoval, Blanca; Jacobson, Samuel G.; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; de Ravel, Thomy; Rosenberg, Thomas;...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1145
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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