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181.
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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. [electronic resource] by
- Mornet, E
- Taillandier, A
- Peyramaure, S
- Kaper, F
- Muller, F
- Brenner, R
- Bussière, P
- Freisinger, P
- Godard, J
- Le Merrer, M
- Oury, J F
- Plauchu, H
- Puddu, R
- Rival, J M
- Superti-Furga, A
- Touraine, R L
- Serre, J L
- Simon-Bouy, B
Producer: 19981106
In:
European journal of human genetics : EJHG vol. 6
Availability: No items available.
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182.
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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. [electronic resource] by
- Colleaux, L
- Rio, M
- Heuertz, S
- Moindrault, S
- Turleau, C
- Ozilou, C
- Gosset, P
- Raoult, O
- Lyonnet, S
- Cormier-Daire, V
- Amiel, J
- Le Merrer, M
- Picq, M
- de Blois, M C
- Prieur, M
- Romana, S
- Cornelis, F
- Vekemans, M
- Munnich, A
Producer: 20011025
In:
European journal of human genetics : EJHG vol. 9
Availability: No items available.
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183.
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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. [electronic resource] by
- Willems, M
- Geneviève, D
- Borck, G
- Baumann, C
- Baujat, G
- Bieth, E
- Edery, P
- Farra, C
- Gerard, M
- Héron, D
- Leheup, B
- Le Merrer, M
- Lyonnet, S
- Martin-Coignard, D
- Mathieu, M
- Thauvin-Robinet, C
- Verloes, A
- Colleaux, L
- Munnich, A
- Cormier-Daire, V
Producer: 20110302
In:
Journal of medical genetics vol. 47
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184.
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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. [electronic resource] by
- Hurvitz, J R
- Suwairi, W M
- Van Hul, W
- El-Shanti, H
- Superti-Furga, A
- Roudier, J
- Holderbaum, D
- Pauli, R M
- Herd, J K
- Van Hul, E V
- Rezai-Delui, H
- Legius, E
- Le Merrer, M
- Al-Alami, J
- Bahabri, S A
- Warman, M L
Producer: 19990923
In:
Nature genetics vol. 23
Availability: No items available.
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185.
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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. [electronic resource] by
- de Lonlay, P
- Seta, N
- Barrot, S
- Chabrol, B
- Drouin, V
- Gabriel, B M
- Journel, H
- Kretz, M
- Laurent, J
- Le Merrer, M
- Leroy, A
- Pedespan, D
- Sarda, P
- Villeneuve, N
- Schmitz, J
- van Schaftingen, E
- Matthijs, G
- Jaeken, J
- Korner, C
- Munnich, A
- Saudubray, J M
- Cormier-Daire, V
Producer: 20010510
In:
Journal of medical genetics vol. 38
Availability: No items available.
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186.
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Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al. [electronic resource] by
- Kaplan, F S
- Xu, M
- Feldman, G
- Brown, M
- Cho, T-J
- Choi, I H
- Connor, J M
- Delai, P Longo Ribeiro
- Economides, A N
- Glaser, D L
- Groppe, J
- Katagiri, T
- Le Merrer, M
- Morhart, R
- Ravazzolo, R
- Rogers, J G
- Smith, R
- Triffitt, J T
- Urtizberea, J A
- Zasloff, M
- Shore, E M
Producer: 20090123
In:
Genetic counseling (Geneva, Switzerland) vol. 19
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187.
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Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). [electronic resource] by
- Mathieu, M
- Piussan, C
- Thepot, F
- Gouget, A
- Lacombe, D
- Pedespan, J M
- Serville, F
- Fontan, D
- Ruffie, M
- Nivelon-Chevallier, A
- Amblard, F
- Chauveau, P
- Moirot, H
- Chabrolle, J P
- Croquette, M F
- Teyssier, M
- Plauchu, H
- Pelissier, M C
- Gilgenkrantz, S
- Turc-Carel, C
- Turleau, C
- Prieur, M
- Le Merrer, M
- Gonzales, M
- Journel, H
Producer: 19970610
In:
Annales de genetique vol. 40
Availability: No items available.
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