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No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. [electronic resource] by
- Flintoff, W F
- Bahuau, M
- Lyonnet, S
- Gilgenkrantz, S
- Lacombe, D
- Marçon, F
- Levilliers, J
- Kachaner, J
- Munnich, A
- Le Merrer, M
Producer: 19930930
In:
American journal of medical genetics vol. 46
Availability: No items available.
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131.
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Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases. [electronic resource] by
- Amiel, J
- Faivre, L
- Marianowskl, R
- Bonnet, D
- Couly, G
- Manach, Y
- Le Merrer, M
- Cormier-Daire, V
- Munnich, A
- Lyonnet, S
Producer: 20010315
In:
Clinical dysmorphology vol. 10
Availability: No items available.
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132.
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Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. [electronic resource] by
- Geneviève, D
- Amiel, J
- Viot, G
- Le Merrer, M
- Sanlaville, D
- Urtizberea, A
- Gérard, M
- Munnich, A
- Cormier-Daire, V
- Lyonnet, Stanislas
Producer: 20050105
In:
American journal of medical genetics. Part A vol. 129A
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133.
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A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. [electronic resource] by
- Gilbert-Dussardier, B
- Bonneau, D
- Gigarel, N
- Le Merrer, M
- Bonnet, D
- Philip, N
- Serville, F
- Verloes, A
- Rossi, A
- Aymé, S
Producer: 19950309
In:
American journal of human genetics vol. 56
Availability: No items available.
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134.
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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes. [electronic resource] by
- Cormier-Daire, V
- Wolf, C
- Munnich, A
- Le Merrer, M
- Nivelon, A
- Bonneau, D
- Journel, H
- Fellmann, F
- Chevy, F
- Roux, C
Producer: 19961211
In:
European journal of pediatrics vol. 155
Availability: No items available.
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135.
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[Cholesterol and development]. [electronic resource] by
- Roux, C
- Wolf, C
- Llirbat, B
- Kolf, M
- Mulliez, N
- Taillemite, J L
- Cormier, V
- Le Merrer, M
- Chevy, F
- Citadelle, D
Producer: 19970721
In:
Comptes rendus des seances de la Societe de biologie et de ses filiales vol. 191
Availability: No items available.
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136.
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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). [electronic resource] by
- Belin, V
- Cusin, V
- Viot, G
- Girlich, D
- Toutain, A
- Moncla, A
- Vekemans, M
- Le Merrer, M
- Munnich, A
- Cormier-Daire, V
Producer: 19980529
In:
Nature genetics vol. 19
Availability: No items available.
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137.
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138.
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SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. [electronic resource] by
- Cormier-Daire, V
- Belin, V
- Cusin, V
- Viot, G
- Girlich, D
- Toutain, A
- Moncla, A
- Vekemans, M
- Le Merrer, M
- Munnich, A
Producer: 20000127
In:
Acta paediatrica (Oslo, Norway : 1992). Supplement vol. 88
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