Your search returned 187 results.

Results
	101.	X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. [electronic resource] by Saugier-Veber, P Munnich, A Bonneau, D Rozet, J M Le Merrer, M Gil, R Boespflug-Tanguy, O Producer: 19940725 In: Nature genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). [electronic resource] by Rousseau, F el Ghouzzi, V Delezoide, A L Legeai-Mallet, L Le Merrer, M Munnich, A Bonaventure, J Producer: 19961024 In: Human molecular genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. [electronic resource] by Bonneau, D Rozet, J M Bulteau, C Berthier, M Mettey, R Gil, R Munnich, A Le Merrer, M Producer: 19930805 In: Journal of medical genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification. [electronic resource] by Delezoide, A L Benoist-Lasselin, C Legeai-Mallet, L Le Merrer, M Munnich, A Vekemans, M Bonaventure, J Producer: 19990128 In: Mechanisms of development vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	SHOX point mutations in dyschondrosteosis. [electronic resource] by Huber, C Cusin, V Le Merrer, M Mathieu, M Sulmont, V Dagoneau, N Munnich, A Cormier-Daire, V Producer: 20011018 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. [electronic resource] by Faivre, L Cormier-Daire, V Geneviève, D Pinto, G Goulet, O Munnich, A Maroteaux, P Le Merrer, M Producer: 20011207 In: Clinical dysmorphology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. [electronic resource] by Mégarbané, A Haddad, F A Haddad-Zebouni, S Achram, M Eich, G Le Merrer, M Superti-Furga, A Producer: 19990930 In: Clinical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? [electronic resource] by Amiel, J Faivre, L Wilson, L Le Merrer, M Munnich, A Winter, R Lyonnet, S Cormier-Daire, V Producer: 20020305 In: Journal of medical genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Pamidronate treatment of children with moderate-to-severe osteogenesis imperfecta: a note of caution. [electronic resource] by Alharbi, M Pinto, G Finidori, G Souberbielle, J C Guillou, F Gaubicher, S Le Merrer, M Polak, M Producer: 20090409 In: Hormone research vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Sulphate transporter gene mutations in apparently isolated club foot. [electronic resource] by Huber, C Odent, S Rumeur, S Padovani, P Penet, C Cormier-Daire, V Munnich, A Le Merrer, M Producer: 20010614 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	[Hereditary multiple exostoses after 40 years of development: a case report]. [electronic resource] by Rambeloarisoa, J el Guedj, M Legeai-Mallet, L Zagdanski, A M Délépine, G Le Merrer, M Farge, D Producer: 20020924 In: La Revue de medecine interne vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). [electronic resource] by Le Merrer, M Ben Othmane, K Stanescu, V Lyonnet, S Van Maldergem, L Royer, G Munnich, A Maroteaux, P Producer: 19921127 In: Journal of medical genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Osteocraniostenosis. [electronic resource] by Verloes, A Narcy, F Grattagliano, B Delezoide, A L Guibaud, P Schaaps, J P Le Merrer, M Maroteaux, P Producer: 19950224 In: Journal of medical genetics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. [electronic resource] by Cormier-Daire, V Amiel, J Vuillaumier-Barrot, S Tan, J Durand, G Munnich, A Le Merrer, M Seta, N Producer: 20001207 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. [electronic resource] by Ma, H W Lajeunie, E Le Merrer, M de Parseval, N Serville, F Weissenbach, J Munnich, A Renier, D Producer: 19960122 In: Human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. [electronic resource] by Rousseau, F Bonaventure, J Legeai-Mallet, L Pelet, A Rozet, J M Maroteaux, P Le Merrer, M Munnich, A Producer: 19941005 In: Nature vol. 371 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. [electronic resource] by Schipani, E Langman, C Hunzelman, J Le Merrer, M Loke, K Y Dillon, M J Silve, C Jüppner, H Producer: 19991006 In: The Journal of clinical endocrinology and metabolism vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. [electronic resource] by Gonzales, M Heuertz, S Martinovic, J Delahaye, S Bazin, A Loget, P Pasquier, L Le Merrer, M Bonaventure, J Producer: 20050913 In: Clinical genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. [electronic resource] by Rousseau, F Bonaventure, J Legeai-Mallet, L Pelet, A Rozet, J M Maroteaux, P Le Merrer, M Munnich, A Producer: 19961017 In: Hormone research vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. [electronic resource] by Isidor, B Cormier-Daire, V Le Merrer, M Lefrancois, T Hamel, A Le Caignec, C David, A Jacquemont, S Producer: 20080616 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
1
2
3
4
5
6
7
8
9
10
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 187 results.