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New insights into Brunner syndrome and potential for targeted therapy.
Published in:
Clinical Genetics, 2016, v. 89, n. 1, p. 120, doi. 10.1111/cge.12589
By:
- Palmer, E.E.;
- Leffler, M.;
- Rogers, C.;
- Shaw, M.;
- Carroll, R.;
- Earl, J.;
- Cheung, N.W.;
- Champion, B.;
- Hu, H.;
- Haas, S.A.;
- Kalscheuer, V.M.;
- Gecz, J.;
- Field, M.
Publication type:
Article
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders.
Published in:
Clinical Genetics, 2018, v. 94, n. 5, p. 450, doi. 10.1111/cge.13412
By:
- Charzewska, A.;
- Maiwald, R.;
- Kahrizi, K.;
- Oehl‐Jaschkowitz, B.;
- Dufke, A.;
- Lemke, J.R.;
- Enders, H.;
- Najmabadi, H.;
- Tzschach, A.;
- Hachmann, W.;
- Jensen, C.;
- Bienek, M.;
- Poznański, J.;
- Nawara, M.;
- Chilarska, T.;
- Obersztyn, E.;
- Hoffman‐Zacharska, D.;
- Gos, M.;
- Bal, J.;
- Kalscheuer, V.M.
Publication type:
Article
The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 24, p. 4916, doi. 10.1093/hmg/ddr430
By:
- Kunde, S.A.;
- Musante, L.;
- Grimme, A.;
- Fischer, U.;
- Müller, E.;
- Wanker, E.E.;
- Kalscheuer, V.M.
Publication type:
Article
Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.
Published in:
Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V
By:
- Mergenthaler, S.;
- Blagitko-Dorfs, N.;
- Wollmann, H.A.;
- Ranke, M.B.;
- Ropers, H.H.;
- Kalscheuer, V.M.;
- Eggermann, T.
Publication type:
Article
Preferential Inactivation of a dupX(q23 → q27-28) Chromosome in a Girl with Mental Retardation and Dysmorphy.
Published in:
Human Heredity, 2001, v. 52, n. 3, p. 177, doi. 10.1159/000053374
By:
- Volleth, M.;
- Stumm, M.;
- Mohnike, K.;
- Kalscheuer, V.M.;
- Jakubiczka, S.;
- Wieacker, P.
Publication type:
Article

Found: 5

New insights into Brunner syndrome and potential for targeted therapy.

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders.

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.

Preferential Inactivation of a dupX(q23 → q27-28) Chromosome in a Girl with Mental Retardation and Dysmorphy.