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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 567, doi. 10.1111/cge.13102
By:
- Chérot, E.;
- Keren, B.;
- Dubourg, C.;
- Carré, W.;
- Fradin, M.;
- Lavillaureix, A.;
- Afenjar, A.;
- Burglen, L.;
- Whalen, S.;
- Charles, P.;
- Marey, I.;
- Heide, S.;
- Jacquette, A.;
- Heron, D.;
- Doummar, D.;
- Rodriguez, D.;
- Billette De Villemeur, T.;
- Moutard, M.‐l.;
- Guët, A.;
- Xavier, J.
Publication type:
Article
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 545, doi. 10.1111/cge.12779
By:
- Valence, S.;
- Garel, C.;
- Barth, M.;
- Toutain, A.;
- Paris, C.;
- Amsallem, D.;
- Barthez, M.‐A.;
- Mayer, M.;
- Rodriguez, D.;
- Burglen, L.
Publication type:
Article
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Published in:
Clinical Genetics, 2013, v. 84, n. 1, p. 86, doi. 10.1111/cge.12013
By:
- Thauvin‐Robinet, C;
- Thomas, S;
- Sinico, M;
- Aral, B;
- Burglen, L;
- Gigot, N;
- Dollfus, H;
- Rossignol, S;
- Raynaud, M;
- Philippe, C;
- Badens, C;
- Touraine, R;
- Gomes, C;
- Franco, B;
- Lopez, E;
- Elkhartoufi, N;
- Faivre, L;
- Munnich, A;
- Boddaert, N;
- Maldergem, L Van
Publication type:
Article
Twenty-five novel mutations including duplications in the ATP7A gene.
Published in:
Clinical Genetics, 2011, v. 79, n. 3, p. 243, doi. 10.1111/j.1399-0004.2010.01461.x
By:
- Moizard, M.-P.;
- Ronce, N.;
- Blesson, S.;
- Bieth, E.;
- Burglen, L.;
- Mignot, C.;
- Mortemousque, I.;
- Marmin, N.;
- Dessay, B.;
- Danesino, C.;
- Feillet, F.;
- Castelnau, P.;
- Toutain, A.;
- Moraine, C.;
- Raynaud, M.
Publication type:
Article
Novel B3GALTL mutation in Peters-plus Syndrome.
Published in:
Clinical Genetics, 2009, v. 76, n. 5, p. 490, doi. 10.1111/j.1399-0004.2009.01253.x
By:
- Dassie-Ajdid, J.;
- Causse, A.;
- Poidvin, A.;
- Granier, M.;
- Kaplan, J.;
- Burglen, L.;
- Doummar, D.;
- Teisseire, P.;
- Vigouroux, A.;
- Malecaze, F.;
- Calvas, P.;
- Chassaing, N.
Publication type:
Article
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
Published in:
Clinical Genetics, 2006, v. 70, n. 1, p. 57, doi. 10.1111/j.1399-0004.2006.00641.x
By:
- Badens, C.;
- Lacoste, C.;
- Philip, N.;
- Martini, N.;
- Courrier, S.;
- Giuliano, F.;
- Verloes, A.;
- Munnich, A.;
- Leheup, B.;
- Burglen, L.;
- Odent, S.;
- Van Esch, H.;
- Levy, N.
Publication type:
Article
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Published in:
American Journal of Neuroradiology, 2023, v. 44, n. 3, p. 334, doi. 10.3174/ajnr.A7805
By:
- Gafner, M.;
- Garel, C.;
- Leibovitz, Z.;
- Valence, S.;
- Krajden Haratz, K.;
- Oegema, R.;
- Mancini, G. M. S.;
- Heron, D.;
- Bueltmann, E.;
- Burglen, L.;
- Rodriguez, D.;
- Huisman, T. A. G. M.;
- Lequin, M. H.;
- Arad, A.;
- Kidron, D.;
- Muqary, M.;
- Gindes, L.;
- Lev, D.;
- Boltshauser, E.;
- Lerman-Sagie, T.
Publication type:
Article
Spectrum of brain malformations in fetuses with mild tubulinopathy.
Published in:
Ultrasound in Obstetrics & Gynecology, 2023, v. 61, n. 6, p. 740, doi. 10.1002/uog.26140
By:
- Hagege, R.;
- Krajden Haratz, K.;
- Malinger, G.;
- Ben‐Sira, L.;
- Leibovitz, Z.;
- Heron, D.;
- Burglen, L.;
- Birnbaum, R.;
- Valence, S.;
- Keren, B.;
- Blumkin, L.;
- Jouannic, J.‐M.;
- Lerman‐Sagie, T.;
- Garel, C.
Publication type:
Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
2012
By:
- Valayannopoulos V;
- Michot C;
- Rodriguez D;
- Hubert L;
- Saillour Y;
- Labrune P;
- de Laveaucoupet J;
- Brunelle F;
- Amiel J;
- Lyonnet S;
- Enza-Razavi F;
- Attié-Bitach T;
- Lacombe D;
- Bahi-Buisson N;
- Desguerre I;
- Chelly J;
- Burglen L;
- Boddaert N;
- de Lonlay P
Publication type:
Journal Article
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 2, p. 140, doi. 10.1002/pd.2167
By:
- Levaillant, J. M.;
- Moeglin, D.;
- Zouiten, K.;
- Bucourt, M.;
- Burglen, L.;
- Soupre, V.;
- Baumann, C.;
- Jaquemont, M. L.;
- Touraine, R.;
- Picard, A.;
- Vuillard, E.;
- Belarbi, N.;
- Oury, J. F.;
- Verloes, A.;
- Vazquez, M. P.;
- Labrune, P.;
- Delezoide, A. L.;
- Gérard-Blanluet, M.
Publication type:
Article

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