Results
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62.
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A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. [electronic resource] by
- Lienhardt, A
- Garabédian, M
- Bai, M
- Sinding, C
- Zhang, Z
- Lagarde, J P
- Boulesteix, J
- Rigaud, M
- Brown, E M
- Kottler, M L
Producer: 20000501
In:
The Journal of clinical endocrinology and metabolism vol. 85
Availability: No items available.
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63.
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Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D. [electronic resource] by
- Nguyen, T M
- Adiceam, P
- Kottler, M L
- Guillozo, H
- Rizk-Rabin, M
- Brouillard, F
- Lagier, P
- Palix, C
- Garnier, J M
- Garabedian, M
Producer: 20030407
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 17
Availability: No items available.
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64.
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Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. [electronic resource] by
- Faivre, L
- Nivelon-Chevallier, A
- Kottler, M L
- Robinet, C
- Khau Van Kien, P
- Lorcerie, B
- Munnich, A
- Maroteaux, P
- Cormier-Daire, V
- LeMerrer, M
Producer: 20010607
In:
American journal of medical genetics vol. 99
Availability: No items available.
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65.
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Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients. [electronic resource] by
- Niccoli-Sire, P
- Murat, A
- Rohmer, V
- Franc, S
- Chabrier, G
- Baldet, L
- Maes, B
- Savagner, F
- Giraud, S
- Bezieau, S
- Kottler, M L
- Morange, S
- Conte-Devolx, B
Producer: 20010906
In:
The Journal of clinical endocrinology and metabolism vol. 86
Availability: No items available.
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66.
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The GnRH receptor gene is preferentially expressed in functioning gonadotroph adenomas and displays a Mae III polymorphism site. [electronic resource] by
- Kottler, M L
- Seret-Bégué, D
- Lahlou, N
- Assayag, M
- Carré, M C
- Lagarde, J P
- Ajzenberg, C
- Christin-Maitre, S
- Bouchard, P
- Mikol, J
- Counis, R
- Warnet, A
Producer: 19981116
In:
Clinical endocrinology vol. 49
Availability: No items available.
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67.
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Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. [electronic resource] by
- Lebrun, M
- Richard, N
- Abeguilé, G
- David, A
- Coëslier Dieux, A
- Journel, H
- Lacombe, D
- Pinto, G
- Odent, S
- Salles, J P
- Taieb, A
- Gandon-Laloum, S
- Kottler, M L
Producer: 20100701
In:
The Journal of clinical endocrinology and metabolism vol. 95
Availability: No items available.
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68.
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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. [electronic resource] by
- Molin, A
- Baudoin, R
- Kaufmann, M
- Souberbielle, J C
- Ryckewaert, A
- Vantyghem, M C
- Eckart, P
- Bacchetta, J
- Deschenes, G
- Kesler-Roussey, G
- Coudray, N
- Richard, N
- Wraich, M
- Bonafiglia, Q
- Tiulpakov, A
- Jones, G
- Kottler, M-L
Producer: 20160113
In:
The Journal of clinical endocrinology and metabolism vol. 100
Availability: No items available.
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