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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
By:
- Nizon, M.;
- Henry, M.;
- Michot, C.;
- Baumann, C.;
- Bazin, A.;
- Bessières, B.;
- Blesson, S.;
- Cordier‐Alex, M.‐P.;
- David, A.;
- Delahaye‐Duriez, A.;
- Delezoïde, A.‐L.;
- Dieux‐Coeslier, A.;
- Doco‐Fenzy, M.;
- Faivre, L.;
- Goldenberg, A.;
- Layet, V.;
- Loget, P.;
- Marlin, S.;
- Martinovic, J.;
- Odent, S.
Publication type:
Article
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 258, doi. 10.1111/j.1399-0004.2009.01290.x
By:
- Saal, S.;
- Faivre, L.;
- Aral, Bernard;
- Gigot, N.;
- Toutain, A.;
- Van Maldergem, L.;
- Destree, A.;
- Maystadt, I.;
- Cosyns, J.-P.;
- Jouk, P.-S.;
- Loeys, B.;
- Chauveau, D.;
- Bieth, E.;
- Layet, V.;
- Mathieu, M.;
- Lespinasse, J.;
- Teebi, A.;
- Franco, B.;
- Gautier, E.;
- Binquet, C.
Publication type:
Article
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Published in:
Clinical Genetics, 2009, v. 76, n. 4, p. 357, doi. 10.1111/j.1399-0004.2009.01194.x
By:
- Nemos, C.;
- Lambert, L.;
- Giuliano, F.;
- Doray, B.;
- Roubertie, A.;
- Goldenberg, A.;
- Delobel, B.;
- Layet, V.;
- N’guyen, M. A.;
- Saunier, A.;
- Verneau, F.;
- Jonveaux, P.;
- Philippe, C.
Publication type:
Article
High frequency of missense mutations in glycogen storage disease type VI.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 722, doi. 10.1007/s10545-007-0499-9
By:
- Beauchamp, N.;
- Taybert, J.;
- Champion, M.;
- Layet, V.;
- Heinz-Erian, P.;
- Dalton, A.;
- Tanner, M.;
- Pronicka, E.;
- Sharrard, M.
Publication type:
Article
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.
Published in:
Human Reproduction, 2011, v. 26, n. 9, p. 2570, doi. 10.1093/humrep/der193
By:
- Gruchy, N.;
- Vialard, F.;
- Decamp, M.;
- Choiset, A.;
- Rossi, A.;
- Le Meur, N.;
- Moirot, H.;
- Yardin, C.;
- Bonnet-Dupeyron, M.N.;
- Lespinasse, J.;
- Herbaut-Graux, M.;
- Till, M.;
- Layet, V.;
- Leporrier, N.
Publication type:
Article
Gorlin syndrome presenting as prenatal chylothorax in a girl.
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 11, p. 997, doi. 10.1002/pd.1231
By:
- Geneviève, D.;
- Walter, E.;
- Gorry, P.;
- Jacquemont, M. L.;
- Dupic, L.;
- Layet, V.;
- Munnich, A.;
- Cormier-Daire, V.;
- Dommergues, M.;
- Lyonnet, S.;
- Mitanchez, D.
Publication type:
Article

Found: 6

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

High frequency of missense mutations in glycogen storage disease type VI.

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.

Gorlin syndrome presenting as prenatal chylothorax in a girl.