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Specific detection of deleted and non‐deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy.
Published in:
Molecular Human Reproduction, 2003, v. 9, n. 7, p. 421, doi. 10.1093/molehr/gag050
By:
- Girardet, A.;
- Hamamah, S.;
- Déchaud, H.;
- Anahory, T.;
- Coubes, C.;
- Hédon, B.;
- Demaille, J.;
- Claustres, M.
Publication type:
Article
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 868, doi. 10.1111/cge.12885
By:
- Ranza, E.;
- Huber, C.;
- Levin, N.;
- Baujat, G.;
- Bole‐Feysot, C.;
- Nitschke, P.;
- Masson, C.;
- Alanay, Y.;
- Al‐Gazali, L.;
- Bitoun, P.;
- Boute, O.;
- Campeau, P.;
- Coubes, C.;
- McEntagart, M.;
- Elcioglu, N.;
- Faivre, L.;
- Gezdirici, A.;
- Johnson, D.;
- Mihci, E.;
- Nur, B.G.
Publication type:
Article
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Published in:
Clinical Genetics, 2015, v. 87, n. 2, p. 124, doi. 10.1111/cge.12411
By:
- Girardet, A.;
- Ishmukhametova, A.;
- Willems, M.;
- Coubes, C.;
- Hamamah, S.;
- Anahory, T.;
- Des Georges, M.;
- Claustres, M.
Publication type:
Article
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
Published in:
2009
By:
- Michel-Calemard, L.;
- Dijoud, F.;
- Till, M.;
- Lambert, J. C.;
- Vercherat, M.;
- Tardya, V.;
- Coubes, C.;
- Morel, Y.
Publication type:
Letter
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation.
Published in:
2016
By:
- Mousty, E.;
- Faure, J.M.;
- Grosjean, F.;
- Coubes, C.;
- Letouzey, V.;
- Fuchs, F.
Publication type:
journal article
Preimplantation genetic diagnosis for cystic fibrosis: The Montpellier center experience.
Published in:
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S30, doi. 10.1016/S1472-6483(10)62340-1
By:
- Fernandez, C.;
- Guittard, C.;
- Des Georges, M.;
- Coubes, C.;
- Anahory, T.;
- Déchaud, H.;
- Hamamah, S.;
- Claustres, M.;
- Girardet, A.
Publication type:
Article
Myotonic dystrophy type 1 and PGD: ovarian stimulation response and correlation analysis between ovarian reserve and genotype.
Published in:
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, n. 5, p. 610, doi. 10.1016/j.rbmo.2010.02.003
By:
- Dechanet, C.;
- Castelli, C.;
- Reyftmann, L.;
- Coubes, C.;
- Hamamah, S.;
- Hedon, B.;
- Dechaud, H.;
- Anahory, T.
Publication type:
Article
French national cohort of children born after PGD.
Published in:
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-33
By:
- L., Foix-L'Hélias;
- B., Ducot;
- N., Frydman;
- C., Rongièes;
- C., Coubes;
- V., Kerbrat;
- R., Frydman;
- P., Labrune;
- J., Bouyer
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
努南综合征的皮肤病表现.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. e266, doi. 10.1111/bjd.17978
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
Publication type:
Article
Dermatological manifestations in Noonan syndrome.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. e249, doi. 10.1111/bjd.17961
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
Publication type:
Article
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. 1438, doi. 10.1111/bjd.17404
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
Publication type:
Article
心脸皮肤综合症中的皮肤表现.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. e30, doi. 10.1111/bjd.17385
By:
- Bessis, D.;
- Morice‐Picard, F.;
- Bourrat, E.;
- Abadie, C.;
- Aouinti, S.;
- Baumann, C.;
- Best, M.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Chiaverini, C.;
- Coubes, C.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Molinari, N.
Publication type:
Article
Dermatological manifestations in cardiofaciocutaneous syndrome.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. e17, doi. 10.1111/bjd.17371
By:
- Bessis, D.;
- Morice‐Picard, F.;
- Bourrat, E.;
- Abadie, C.;
- Aouinti, S.;
- Baumann, C.;
- Best, M.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Chiaverini, C.;
- Coubes, C.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Molinari, N.
Publication type:
Article
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. 172, doi. 10.1111/bjd.17077
By:
- Best, M.;
- Pernet, C.;
- Bessis, D.;
- Coubes, C.;
- Pinson, L.;
- Sarda, P.;
- Geneviève, D.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Parfait, B.;
- Philip, N.;
- Sigaudy, S.;
- Pouvreau, N.;
- Vial, Y.
Publication type:
Article
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Published in:
Journal of Intellectual Disability Research, 2020, v. 64, n. 12, p. 956, doi. 10.1111/jir.12787
By:
- Mulder, P. A.;
- Balkom, I. D. C.;
- Landlust, A. M.;
- Priolo, M.;
- Menke, L. A.;
- Acero, I. H.;
- Alkuraya, F. S.;
- Arias, P.;
- Bernardini, L.;
- Bijlsma, E. K.;
- Cole, T.;
- Coubes, C.;
- Dapia, I.;
- Davies, S.;
- Di Donato, N.;
- Elcioglu, N. H.;
- Fahrner, J. A.;
- Foster, A.;
- González, N. G.;
- Huber, I.
Publication type:
Article

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