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Results 1 to 25 of 621

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METAPHYSEAL CHONDRODYSPLASIA.SPRANGER JW.1977; POSTGRAD. MED. J.; G.B.; DA. 1977; VOL. 53; NO 622; PP. 480-487; BIBL. 1 P.; (BONE DYSPLASIAS. SYMP. PROC.; BRISTOL; 1976)Conference Paper

INITIAL IDENTIFICATION OF CHONDRODYSTROPHIC TURKEY EMBRYOSSTOUT JT; BUSS EG.1979; J. HERED.; USA; DA. 1979; VOL. 70; NO 2; PP. 139-141; BIBL. 3 REF.Article

A NEW TYPE OF CHONDRODYSTROPHIC MUTANT IN THE MOUSE.FERGUSON JM; WALLACE ME; JOHNSON DR et al.1978; J. MED. GENET.; G.B.; DA. 1978; VOL. 15; NO 2; PP. 128-131; BIBL. 8 REF.Article

HEREDITARY CHONDRODYSTROPHY IN THE TURKEY.NESTOR KE.1978; POULTRY SCI.; USA; DA. 1978; VOL. 57; NO 3; PP. 577-580; BIBL. 6 REF.Article

Chondrodysplasie ponctuée de type Conradi-Hünermann et alcoolisme fœtal = Conradi Hünermann type chondrodysplasia punctata and fetal alcoholismSARDA, P; GUILLAUMONT, S; JALAGUIER, J et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 395-399, issn 0021-7743, 5 p.Article

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsPOULOS, A; SHEFFIELD, L; SHARP, P et al.The Journal of pediatrics. 1988, Vol 113, Num 4, pp 685-690, issn 0022-3476Article

Pyle disease (metaphyseal dysplasia)BEIGHTON, P.Journal of medical genetics. 1987, Vol 24, Num 6, pp 321-324, issn 0022-2593Article

SYNDROMES WITH CONGENITAL CATARACT (CONRADI-HUNERMAN SYNDROME): A CASE REPORTABEDI S.1982; ANN. OPHTALMOL.; ISSN 0003-4886; USA; DA. 1982; VOL. 14; NO 6; PP. 595-597; BIBL. 7 REF.Article

LA MALADIE CONGENITALE DES EPIPHYSES PONCTUEES. DIFFICULTES DIAGNOSTIQUES, INCERTITUDES NOSOLOGIQUES: A PROPOS DE 5 OBSERVATIONS CLINIQUESTROUILLARD PERROT MICHEL.1980; ; FRA; DA. 1980; 65 P.; 30 CM; BIBL. 37 REF.; TH.: MED./PARIS 6/1980/122Thesis

LA MALADIE DES EPIPHYSES PONCTUEES (A PROPOS DE 6 OBSERVATIONS)FALL M; NIANG I; KUAKUVI N et al.1979; DAKAR MED.; SEN; DA. 1979; VOL. 24; NO 4; PP. 377-384; ABS. ENG; BIBL. 19 REF.Article

MANDIBULAR GROWTH RETARDATION AS A CAUSE OF CLEFT PALATE IN MICE HOMOZYGOUS FOR THE CHONDRODYSPLASIA GENE.SEEGMILLER RE; FRASER FC.1977; J. EMBRYOL. EXPER. MORPHOL.; G.B.; DA. 1977; VOL. 38; PP. 227-238; BIBL. 2 P.Article

CHONDRODYSPLASIA PUNCTATA. CONRADI-HUENERMANN SYNDROME.EDIDIN DV; ESTERLY NB; BAMZAI AK et al.1977; ARCH. DERMATOL.; U.S.A.; DA. 1977; VOL. 113; NO 10; PP. 1431-1434; BIBL. 16 REF.Article

THE EFFECT OF INHERITED CHONDRODYSTROPHY ON THE HEXOSAMINE CONTENT OF CARTILAGE FROM TURKEY EMBRYOS.LEACH RM JR; BUSS EG.1977; POULTRY SCI.; U.S.A.; DA. 1977; VOL. 56; NO 3; PP. 1043-1045; BIBL. 12 REF.Article

EVOLUTION DES IDEES SUR LES CHONDRODYSTROPHIES GENOTYPIQUES. A PROPOS DU LIVRE DE P. MAROTEAUX "MALADIES OSSEUSES DE L'ENFANT" (1975).SCHILLINGER D; DIRHEIMER Y.1977; J. MED. STRASBOURG; FR.; DA. 1977; VOL. 8; NO 7; PP. 507-509; ABS. ANGL.Article

HOMOLOGOUS GENES FOR X-LINKED CHONDRODYSPLASIA PUNCTATA IN MAN AND MOUSEHAPPLE R; PHILLIPS RJS; ROESSNER A et al.1983; HUMAN GENETICS; ISSN 0340-6717; DEU; DA. 1983; VOL. 63; NO 1; PP. 24-27; BIBL. 12 REF.Article

Chondrodysplasia punctata. Report of two casesANDERSEN, R. E. JR; JUTESEN, P.Skeletal radiology. 1987, Vol 16, Num 3, pp 223-226, issn 0364-2348Article

DIE SOGENANNTE CHONDRODYSTROPHIE DES NEUGEBORENEN. = LA CHONDRODYSTROPHIE DU NOUVEAU-NENOLTE K.1976; RADIOLOGE; DTSCH.; DA. 1976; VOL. 16; NO 7; PP. 278-282; ABS. ANGL.; BIBL. 5 REF.Article

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsJAKKULA, Eveliina; MÄKITIE, Outi; CZARNY-RATACJZAK, Malwina et al.European journal of human genetics. 2005, Vol 13, Num 3, pp 292-301, issn 1018-4813, 10 p.Article

Grebe-type chondrodysplasia : a novel missense mutation in a conserved cysteine of the growth differentiation factor 5FAIYAZ-UL-HAQUE, Muhammad; FAQEIH, Eissa A; AL-ZAIDAN, Hamad et al.Journal of bone and mineral metabolism (English ed.). 2008, Vol 26, Num 6, pp 648-652, issn 0914-8779, 5 p.Article

OSTEOCONDRODISPLASIE CONGENITE. CASISTICA PERSONALE. = OSTEOCHONDRODYSPLASIE CONGENITALE. CAS PERSONNELSCAMERA G.1976; RADIOL. MED.; ITAL.; DA. 1976; VOL. 62; NO 4; PP. 241-247; ABS. ANGL.; BIBL. 42 REF.Article

Genochondromatosis type II : Report of a new patient and further delineation of the phenotypeISIDOR, Bertrand; GUILLARD, Sophie; HAMEL, Antoine et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 16, pp 1919-1921, issn 1552-4825, 3 p.Article

Prenatal diagnosis of boomerang dysplasiaWESSELS, Marja W; DEN HOLLANDER, Nicolette S; DE KRIJGER, Ronald R et al.American journal of medical genetics. 2003, Vol 122A, Num 2, pp 148-154, issn 0148-7299, 7 p.Article

Sib Pair With Previously Unreported Skeletal DysplasiaMEGARBANE, André; DAGHER, Rawane; MELKI, Imad et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2916-2919, issn 1552-4825, 4 p.Article

THE PATHOLOGY OF CARTILAGE IN CHONDRODYSPLASIASHWANG WS; TOCK EPC; TAN KL et al.1979; J. PATHOL.; GBR; DA. 1979; VOL. 127; NO 1; PP. 11-18; H.T. 8; BIBL. 8 REF.Article

Desbuquois dysplasia, a reevaluation with abnormal and normal hands: Radiographic manifestationsFAIVRE, Laurence; CORMIER-DAIRE, Valérie; ELIOTT, Alison M et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 48-53, issn 0148-7299, 6 p.Article

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