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Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
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Published in Clinical genetics (01.04.2016)
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Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)
Heuertz, S, Smahi, A, Wilkie, A O, Le Merrer, M, Maroteaux, P, Hors-Cayla, M C
Published in Human genetics (01.10.1995)
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Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome
Merrer, M L, Briard, M L, Girard, S, Mulliez, N, Moraine, C, Imbert, M C
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Published in Journal of medical genetics (01.02.1988)
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Progressive osseous heteroplasia : Report of a family
URTIZBEREA, J. A, TESTART, H, CARTAULT, F, BOCCON-GIBOD, L, LE MERRER, M, KAPLAN, F. S
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Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1
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Published in Human molecular genetics (01.12.1997)
Published in Human molecular genetics (01.12.1997)
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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
Munnich, Arnold, Gil, Roger, Boespflug-Tanguy, Odile, Rozet, Jean-Michel, Bonneau, Dominique, Saugier-Veber, Pascale, Le Merrer, Martine
Published in Nature genetics (01.03.1994)
Published in Nature genetics (01.03.1994)
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IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Vilain, Eric, Le Merrer, Martine, Lecointre, Claudine, Desangles, Francois, Kay, Mark A, Maroteaux, Pierre, McCabe, Edward R. B
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Published in The journal of clinical endocrinology and metabolism (01.12.1999)
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Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
Chaabouni, M., Le Merrer, M., Raoul, O., Prieur, M., de Blois, M.C., Philippe, A., Vekemans, M., Romana, S.P.
Published in European journal of medical genetics (01.05.2006)
Published in European journal of medical genetics (01.05.2006)
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Sulphate transporter gene mutations in apparently isolated club foot
HUBER, C, ODENT, S, RUMEUR, S, PADOVANI, P, PENET, C, CORMIER-DAIRE, V, MUNNICH, A, LE MERRER, M
Published in Journal of medical genetics (01.03.2001)
Published in Journal of medical genetics (01.03.2001)
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A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
Munnich, Arnold, Sanak, Marek, Rousseau, Francis, Bonaventure, Jacky, Merrer, Martine Le, Maroteaux, Pierre, Weissenbach, Jean, Landais, Jean-Christophe, Stoll, Claude, Pelet, Anna, Legeai-Mallet, Laurence
Published in Nature genetics (01.03.1994)
Published in Nature genetics (01.03.1994)
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Ostéogenèse imparfaite, annonce du diagnostic (classification clinique et génétique)
Baujat, G., Lebre, A.-S., Cormier-Daire, V., Le Merrer, M.
Published in Archives de pédiatrie (Paris) (01.06.2008)
Published in Archives de pédiatrie (Paris) (01.06.2008)
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Conference Proceeding
COLl9A3 : A third locus for multiple epiphyseal dysplasia
PAASSILTA, P, LOHINIVA, J, ANNUNEN, S, BONAVENTURE, J, LE MERRER, M, PAI, L, ALA-KOKKO, L
Published in American journal of human genetics (1999)
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Published in American journal of human genetics (1999)
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An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses
LEGEAI-MALLET, L, MARGARITTE-JEANNIN, P, LEMDANI, M, LE MERRER, M, PLAUCHU, H, MAROTEAUX, P, MUNNICH, A, CLERGET-DARPOUX, F
Published in Human genetics (01.03.1997)
Published in Human genetics (01.03.1997)
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Nance-Horan syndrome : linkage analysis in 4 families refines localization in XP22.31-p22.13 region
TOUTAIN, A, RONCE, N, DESSAY, B, ROBB, L, FRANCANNET, C, LE MERRER, M, BRIARD, M.-L, KAPLAN, J, MORAINE, C
Published in Human genetics (01.02.1997)
Published in Human genetics (01.02.1997)
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Physical mapping by FISH of the DiGeorge critical region (DGCR) : involvement of the region in familial cases
DESMAZE, C, PRIEUR, M, BREVIERE, G.-M, HUON, C, LE MERRER, M, MATHIEU, M, SIDI, D, STEPHAN, J.-L, AURIAS, A, AMBLARD, F, AÏKEM, M, LEDEIST, F, DEMCZUK, S, ZUCMAN, J, PLOUGASTEL, B, DELATTRE, O, CROQUETTE, M.-F
Published in American journal of human genetics (01.12.1993)
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Published in American journal of human genetics (01.12.1993)
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