OpenURL Connection Search

Select item for more details and to access through your institution.

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 2, p. 374, doi. 10.1111/cge.13074
By:
- Trimouille, A.;
- Lasseaux, E.;
- Barat, P.;
- Deiller, C.;
- Drunat, S.;
- Rooryck, C.;
- Arveiler, B.;
- Lacombe, D.
Publication type:
Article
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
Published in:
Clinical Genetics, 2006, v. 70, n. 3, p. 207, doi. 10.1111/j.1399-0004.2006.00664.x
By:
- Reboul, M.-P.;
- Tandonnet, O.;
- Biteau, N.;
- Belet-de Putter, C.;
- Rebouissoux, L.;
- Moradkhani, K.;
- Vu, P. Y.;
- Saura, R.;
- Arveiler, B.;
- Lacombe, D.;
- Taine, L.;
- Iron, A.
Publication type:
Article
Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease.
Published in:
European Journal of Neurology, 2006, v. 13, n. 9, p. 1022, doi. 10.1111/j.1468-1331.2006.01339.x
By:
- Rondeau, Virginie;
- Iron, A.;
- Letenneur, L.;
- Commenges, D.;
- Duchêne, F.;
- Arveiler, B.;
- Dartigues, J.-F.
Publication type:
Article
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2714, doi. 10.1002/ajmg.a.37212
By:
- Houcinat, N.;
- Llanas, B.;
- Moutton, S.;
- Toutain, J.;
- Cailley, D.;
- Arveiler, B.;
- Combe, C.;
- Lacombe, D.;
- Rooryck, C.
Publication type:
Article
Management of albinism: French guidelines for diagnosis and care.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 7, p. 1449, doi. 10.1111/jdv.17275
By:
- Moreno‐Artero, E.;
- Morice‐Picard, F.;
- Bremond‐Gignac, D.;
- Drumare‐Bouvet, I.;
- Duncombe‐Poulet, C.;
- Leclerc‐Mercier, S.;
- Dufresne, H.;
- Kaplan, J.;
- Jouanne, B.;
- Arveiler, B.;
- Taieb, A.;
- Hadj‐Rabia, S.
Publication type:
Article
ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient.
Published in:
2018
By:
- Petre, J.;
- Lasseaux, E.;
- Ged, C.;
- Arveiler, B.;
- Taïeb, A.;
- Morice‐Picard, F.
Publication type:
Letter to the Editor
Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia.
Published in:
Molecular Psychiatry, 2001, v. 6, n. 2, p. 173, doi. 10.1038/sj.mp.4000784
By:
- Millar, J.K.;
- Christie, S.;
- Anderson, S.;
- Lawson, D.;
- Hsiao-Wei Loh, D.;
- Devon, R.S.;
- Arveiler, B.;
- Muir, W.J.;
- Blackwood, D.H.R.;
- Porteous, D.J.
Publication type:
Article
Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders.
Published in:
Clinical & Experimental Dermatology, 2020, v. 45, n. 5, p. 621, doi. 10.1111/ced.14203
By:
- Morice‐Picard, F.;
- Letertre, O.;
- Lasseaux, E.;
- Cario‐Andre, M.;
- Arveiler, B.;
- Taieb, A.
Publication type:
Article

Found: 8