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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03106-z
By:
- Pfeifer, Mateja;
- Rehder, Helga;
- Gerykova Bujalkova, Maria;
- Bartsch, Christine;
- Fritz, Barbara;
- Knopp, Cordula;
- Beckers, Björn;
- Dohle, Frank;
- Meyer-Wittkopf, Matthias;
- Axt-Fliedner, Roland;
- Beribisky, Alexander V.;
- Hofer, Manuel;
- Laccone, Franco;
- Schoner, Katharina
Publication type:
Article
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Published in:
2019
By:
- Karsai, Gergely;
- Kraft, Florian;
- Haag, Natja;
- Korenke, G. Christoph;
- Hänisch, Benjamin;
- Othman, Alaa;
- Suriyanarayanan, Saranya;
- Steiner, Regula;
- Knopp, Cordula;
- Mull, Michael;
- Bergmann, Markus;
- Schröder, J. Michael;
- Weis, Joachim;
- Elbracht, Miriam;
- Begemann, Matthias;
- Hornemann, Thorsten;
- Kurth, Ingo
Publication type:
journal article
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Published in:
Pediatric Nephrology, 2017, v. 32, n. 10, p. 1989, doi. 10.1007/s00467-017-3710-8
By:
- Bruechle, Nadia;
- Steuernagel, Peter;
- Zerres, Klaus;
- Kurth, Ingo;
- Eggermann, Thomas;
- Knopp, Cordula
Publication type:
Article
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722
By:
- Morin, Gilles;
- Bruechle, Nadina Ortiz;
- Singh, Amrathlal Rabbind;
- Knopp, Cordula;
- Jedraszak, Guillaume;
- Elbracht, Miriam;
- Brémond‐Gignac, Dominique;
- Hartmann, Kathi;
- Sevestre, Henri;
- Deutz, Peter;
- Hérent, Didier;
- Nürnberg, Peter;
- Roméo, Bernard;
- Konrad, Kerstin;
- Mathieu‐Dramard, Michèle;
- Oldenburg, Johannes;
- Bourges‐Petit, Elisabeth;
- Shen, Yuequan;
- Zerres, Klaus;
- Ouadid‐Ahidouch, Halima
Publication type:
Article
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
By:
- Morin, Gilles;
- Bruechle, Nadina Ortiz;
- Singh, Amrathlal Rabbind;
- Knopp, Cordula;
- Jedraszak, Guillaume;
- Elbracht, Miriam;
- Brémond‐Gignac, Dominique;
- Hartmann, Kathi;
- Sevestre, Henri;
- Deutz, Peter;
- Hérent, Didier;
- Nürnberg, Peter;
- Roméo, Bernard;
- Konrad, Kerstin;
- Mathieu‐Dramard, Michèle;
- Oldenburg, Johannes;
- Bourges‐Petit, Elisabeth;
- Shen, Yuequan;
- Zerres, Klaus;
- Ouadid‐Ahidouch, Halima
Publication type:
Article
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
Published in:
Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1447, doi. 10.1007/s00109-020-01966-z
By:
- Eggermann, Thomas;
- Brück, Johanna;
- Knopp, Cordula;
- Fekete, György;
- Kratz, Christian;
- Tasic, Velibor;
- Kurth, Ingo;
- Elbracht, Miriam;
- Eggermann, Katja;
- Begemann, Matthias
Publication type:
Article
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Published in:
Deutsches Ärzteblatt International, 2022, v. 119, n. 51/52, p. 895
By:
- Knopp, Cordula;
- Steiner, Robin;
- Lausberg, Eva;
- von Hoegen, Caroline;
- Busse, Sabine;
- Meyer, Robert;
- Eggermann, Katja;
- Schüler, Herdit;
- Begemann, Matthias;
- Eggermann, Thomas;
- Kurth, Ingo;
- Schulz, Jörg B.;
- Elbracht, Miriam;
- Maier, Andrea
Publication type:
Article

Found: 7

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.