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Results 1 to 25 of 128

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Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndromeMEGARBANE, André; CORMIER-DAIRE, Valérie.American journal of medical genetics. 2001, Vol 102, Num 2, pp 153-156, issn 0148-7299Article

Classification moléculaire des maladies osseuses constitutionnelles = Molecular classification of constitutional bone diseasesCORMIER-DAIRE, Valérie; LE MERRER, Martine.MT. Médecine thérapeutique. 2001, Vol 7, Num 6, pp 440-444, issn 1264-6520Article

The ADAMTS(L) family and human genetic disordersGOFF, Carine Le; CORMIER-DAIRE, Valérie.Human molecular genetics (Print). 2011, Vol 20, Num 2, issn 0964-6906, R163-R167, NSArticle

Risk of tumorigenesis in overgrowth syndromes : A comprehensive reviewLAPUNZINA, Pablo.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 53-71, issn 0148-7299, 19 p.Article

Overgrowth syndrome: an updateCORMIER-DAIRE, Valérie; COHEN, M. Michael.American journal of medical genetics. 2005, Vol 137C, Num 1, issn 0148-7299, 78 p.Serial Issue

NSD1 mutations in sotos syndromeFARAVELLI, Francesca.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 24-31, issn 0148-7299, 8 p.Article

Re-evaluation of kyphomelic dysplasiaLE MERRER, Martine; CORMIER DAIRE, Valerie; MAROTEAUX, Pierre et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 289-291, issn 0148-7299, 3 p.Article

Les réarrangements du génome mitochondrial dans les déficits énergétiques de l'enfant = Rearrangements of the mitochondrial genome in children's defects of oxidative phosphorylationCormier-Daire, Valérie; Dujon, Bernard.1993, 156 p.Thesis

Tumor predisposition in costello syndromeGRIPP, Karen W.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 72-77, issn 0148-7299, 6 p.Article

Proteus syndrome : An updateCOHEN, M. Michael.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 38-52, issn 0148-7299, 15 p.Article

From Tall to Short: The Role of TGFβ Signaling in Growth and Its DisordersLE GOFF, Carine; CORMIER-DAIRE, Valérie.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 145-153, issn 1552-4868, 9 p.Article

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patientsFAIVRE, Laurence; VEKEMANS, Michel; SANLAVILLE, Damien et al.American journal of medical genetics. 2001, Vol 99, Num 2, pp 166-167, issn 0148-7299Article

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann SyndromeBELLAIS, Samuel; LE GOFF, Carine; DAGONEAU, Nathalie et al.European journal of human genetics. 2010, Vol 18, Num 1, pp 130-132, issn 1018-4813, 3 p.Article

Beckwith-Wiedemann syndromeWEKSBERG, Rosanna; SHUMAN, Cheryl; SMITH, Adam C et al.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 12-23, issn 0148-7299, 12 p.Article

Fragile X syndromeTERRACCIANO, Alessandra; CHIURAZZI, Pietro; NERI, Giovanni et al.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 32-37, issn 0148-7299, 6 p.Article

Clinical and molecular overlap in overgrowth syndromesBAUJAT, Geneviève; RIO, Marlène; ROSSIGNOL, Sylvie et al.American journal of medical genetics. 2005, Vol 137C, Num 1, pp 4-11, issn 0148-7299, 8 p.Article

Severe, atypical form of dyschondrosteosis (report of two cases)BIEGANSKI, Tadeusz; BIK, Krzysztof; CORMIER-DAIRE, Valerie et al.European journal of pediatrics. 2005, Vol 164, Num 9, pp 539-543, issn 0340-6199, 5 p.Article

Ciliary Disorder of the SkeletonHUBER, Celine; CORMIER-DAIRE, Valerie.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 165-174, issn 1552-4868, 10 p.Article

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)CORMIER-DAIRE, Valerie; HUBER, Céline; MUNNICH, Arnold et al.American journal of medical genetics. 2001, Vol 106, Num 4, pp 272-274, issn 0148-7299Article

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndromeGIRISHA, K. M; CORMIER-DAIRE, Valerie; HEUERTZ, Solange et al.European journal of medical genetics. 2008, Vol 51, Num 3, pp 251-256, issn 1769-7212, 6 p.Article

Postnatal Growth Retardation, Facial Dysmorphism, Spondylocarpal Synostosis, Cardiac Defect, and Inner Ear Malformation (Cardiospondylocarpofacial Syndrome?)—A Distinct Syndrome?SOUSA, Sérgio B; BAUJAT, Geneviéve; ABADIE, Véronique et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 539-546, issn 1552-4825, 8 p.Article

A New Osteogenesis Imperfecta With Improvement Over Time Maps to llqKAMOUN-GOLDRAT, Agnès; PANNIER, Stéphanie; HUBER, Céline et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1807-1814, issn 1552-4825, 8 p.Article

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 casesGOLDENBERG, Alice; WOLF, Claude; CHEVY, Francoise et al.American journal of medical genetics. 2004, Vol 124A, Num 4, pp 423-426, issn 0148-7299, 4 p.Article

Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein patternDUPRE, Thierry; CUER, Maryvonne; BARROT, Sandrine et al.Clinical chemistry (Baltimore, Md.). 2001, Vol 47, Num 1, pp 132-134, issn 0009-9147Article

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31CORMIER-DAIRE, Valérie; DAGONEAU, Nathalie; NABBOUT, Rima et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 991-993, issn 0002-9297Article

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