Canlyniadau Chwilio - Cormier‐Daire, V

High incidence of SHOX anomalies in individuals with short stature gan Huber, C, Rosilio, M, Munnich, A, Cormier‐Daire, V

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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? gan Amiel, J., Cormier-Daire, V., Journeau, P., Mussat, P., Munnich, A., Lyonnet, S.

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Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation gan Cormier-Daire, V., Chauvet, M., Lyonnet, S., Briard, M., Munnich, A., Le Merrer, M.

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Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD gan Borochowitz, Z, Scheffer, D, Adir, V, Dagoneau, N, Munnich, A, Cormier-Daire, V

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Sulphate transporter gene mutations in apparently isolated club foot gan HUBER, C, ODENT, S, RUMEUR, S, PADOVANI, P, PENET, C, CORMIER-DAIRE, V, MUNNICH, A, LE MERRER, M

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male gan Imessaoudene, B., Bonnefont, J., Royer, G., Cormier-Daire, V., Lyonnet, S., Lyon, G., Munnich, A., Amiel, J.

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Genetic heterogeneity of Meckel syndrome. gan Roume, J, Ma, H W, Le Merrer, M, Cormier-Daire, V, Girlich, D, Genin, E, Munnich, A

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Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? gan Amiel, J, Faivre, L, Wilson, L, Le Merrer, M, Munnich, A, Winter, R, Lyonnet, S, Cormier-Daire, V

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Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism gan CORMIER-DAIRE, V, AMIEL, J, VUILLAUMIER-BARRO..., S, TAN, J, DURAND, G, MUNNICH, A, LE MERRER, M, SETA, N

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SHOX point mutations in dyschondrosteosis gan Huber, C., Cusin, V., Le Merrer, M., Mathieu, M., Sulmont, V., Dagoneau, N., Munnich, A., Cormier-Daire, V.

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Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type gan Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.

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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? gan Cormier-Daire, V, Molinari, F, Rio, M, Raoul, O, de Blois, M-C, Romana, S, Vekemans, M, Munnich, A, Colleaux, L

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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families gan Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients gan Vuillaumier-Barro..., S., Hetet, G., Barnier, A., Dupre, T., Cuer, M., de Lonlay, P., Cormier-Daire, V., Durand, G., Grandchamp, B., Seta, N.

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Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 gan Faivre, L, Le Merrer, M, Al-Gazali, L, Ausems, M, Bitoun, P, Bacq, D, Maroteaux, P, Munnich, A, Cormier-Daire, V

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Myhre syndrome: new reports, review, and differential diagnosis gan Burglen, L, Heron, D, Moerman, A, Dieux-Coeslier, A, Bourguignon, J, Bachy, A, Carel, J, Cormier-Daire, V, Manouvrier, S, Verloes, A

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Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? gan Holder-Espinasse, M, Marie, S, Bourrouillou, G, Ceballos-Picot, I, Nassogne, M, Faivre, L, Amiel, J, Munnich, A, Vincent, M, Cormier-Daire, V

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome gan Borck, G, Redon, R, Sanlaville, D, Rio, M, Prieur, M, Lyonnet, S, Vekemans, M, Carter, N, Munnich, A, Colleaux, L, Cormier-Daire, V

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. gan von Kleist-Retzow, J C, Cormier-Daire, V, de Lonlay, P, Parfait, B, Chretien, D, Rustin, P, Feingold, J, Rötig, A, Munnich, A

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A new lethal syndrome of exomphalos, short limbs, and macrogonadism gan Faivre, L., Delezoide, A., Narcy, F., Razavi, F., Bouvier, R., Cormier-Daire, V., Briard, M., Lyonnet, S., Vekemans, M., Munnich, A., Le Merrer, M.

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