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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Published in:
Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
By:
- Chassaing, N.;
- Causse, A.;
- Vigouroux, A.;
- Delahaye, A.;
- Alessandri, J.‐L.;
- Boespflug‐Tanguy, O.;
- Boute‐Benejean, O.;
- Dollfus, H.;
- Duban‐Bedu, B.;
- Gilbert‐Dussardier, B.;
- Giuliano, F.;
- Gonzales, M.;
- Holder‐Espinasse, M.;
- Isidor, B.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Martin‐Coignard, D.;
- Mathieu‐Dramard, M.;
- Odent, S.;
- Picone, O.
Publication type:
Article
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
Published in:
Clinical Genetics, 2012, v. 81, n. 3, p. 265, doi. 10.1111/j.1399-0004.2010.01621.x
By:
- Petit, F;
- Holder-Espinasse, M;
- Duban-Bedu, B;
- Bouquillon, S;
- Boute-Benejean, O;
- Bazin, A;
- Rouland, V;
- Manouvrier-Hanu, S;
- Delobel, B
Publication type:
Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Published in:
Neurogenetics, 2018, v. 19, n. 2, p. 93, doi. 10.1007/s10048-018-0541-0
By:
- Smol, T.;
- Petit, F.;
- Piton, A.;
- Keren, B.;
- Sanlaville, D.;
- Afenjar, A.;
- Baker, S.;
- Bedoukian, E. C.;
- Bhoj, E. J.;
- Bonneau, D.;
- Boudry-Labis, E.;
- Bouquillon, S.;
- Boute-Benejean, O.;
- Caumes, R.;
- Chatron, N.;
- Colson, C.;
- Coubes, C.;
- Coutton, C.;
- Devillard, F.;
- Dieux-Coeslier, A.
Publication type:
Article

Found: 3

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.