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ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Published in:
Clinical Genetics, 2018, v. 93, n. 1, p. 169, doi. 10.1111/cge.13048
By:
- Nizon, M.;
- Küry, S.;
- Péréon, Y.;
- Besnard, T.;
- Quinquis, D.;
- Boisseau, P.;
- Marsaud, T.;
- Magot, A.;
- Mussini, J.‐M.;
- Mayrargue, E.;
- Barbarot, S.;
- Bézieau, S.;
- Isidor, B.
Publication type:
Article
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
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Published in:
Clinical Genetics, 2013, v. 84, n. 1, p. 31, doi. 10.1111/cge.12036
By:
- Rio, M;
- Royer, G;
- Gobin, S;
- Blois, MC;
- Ozilou, C;
- Bernheim, A;
- Nizon, M;
- Munnich, A;
- Bonnefont, J‐P;
- Romana, S;
- Vekemans, M;
- Turleau, C;
- Malan, V
Publication type:
Article