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Author/Creator Braun, Daniela A

1. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Issue 3 (9th March 2018)

Authors:
Braun, Daniela A; Warejko, Jillian K; Ashraf, Shazia; Tan, Weizhen; Daga, Ankana; Schneider, Ronen; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Nakayama, Makiko; Schapiro, David; Rao, Jia; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Hugo, Hannah; Bakkaloglu...
Journal:
Nephrology dialysis transplantation
Issue:
Volume 34:Issue 3(2019)
Page Start:
485
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015)

Authors:
Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 10(2015)
Page Start:
657
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Issue 3 (16th December 2015)

Authors:
Schueler, Markus; Halbritter, Jan; Phelps, Ian G; Braun, Daniela A; Otto, Edgar A; Porath, Jonathan D; Gee, Heon Yung; Shendure, Jay; O'Roak, Brian J; Lawson, Jennifer A; Nabhan, Marwa M; Soliman, Neveen A; Doherty, Dan; Hildebrandt, Friedhelm
Other Names:
Yalcinkaya F author non-byline.; Bakkaloglu S author non-byline.; Ozaltin F author non-byline.; Comak E author non-byline.; Krull F author non-byline.; Schmitz-Hübner author non-byline.; Rupprecht H author non-byline.; Muller D author non-byline.; Dahlem P author non-byline.; Hoppe B author non-b...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
208
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Issue 3 (21st March 2018)

Authors:
Schapiro, David; Daga, Ankana; Lawson, Jennifer A; Majmundar, Amar J; Lovric, Svjetlana; Tan, Weizhen; Warejko, Jillian K; Fessi, Inés; Rao, Jia; Airik, Merlin; Gee, Heon Yung; Schneider, Ronen; Widmeier, Eugen; Hermle, Tobias; Ashraf, Shazia; Jobst-Schwan, Tilman; van der Ven, Amelie T; Nakayama...
Journal:
Nephrology dialysis transplantation
Issue:
Volume 34:Issue 3(2019)
Page Start:
474
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗