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Results 1 to 25 of 334

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Achondroplasia in sibs of normal parentsPHILIP, N; AUGER, M; MATTEI, J. F et al.Journal of medical genetics. 1988, Vol 25, Num 12, pp 857-859, issn 0022-2593Article

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parentsFRYNS, J. P; KLECZKOWSKA, A; VERRESEN, H et al.Clinical genetics. 1983, Vol 24, Num 3, pp 156-158, issn 0009-9163Article

Homozygous a chondroplasia with survival beyond infancyPAULI, R. M; CONROY, M. M; LANGER, L. O. JR et al.American journal of medical genetics. 1983, Vol 16, Num 4, pp 459-473, issn 0148-7299Article

Editorial comment: unstable premutation in achondroplasia: penetrance vs phenotranceOPITZ, J. M.American journal of medical genetics. 1984, Vol 19, Num 2, pp 251-254, issn 0148-7299Article

Computerized tomography of the foramen magnum: achondroplastic values compared to normal standardsHECHT, J. T; NELSON, F. W; BUTLER, I. J et al.American journal of medical genetics. 1985, Vol 20, Num 2, pp 355-360, issn 0148-7299Article

Cytochrome a3 deficiency in human achondroplasiaMACKLER, B; DAVIS, K. A; GRACE, R et al.Biochimica et biophysica acta. 1987, Vol 891, Num 2, pp 145-149, issn 0006-3002Article

Apnea and sudden unexpected death in infants with achondroplasiaPAULI, R. M; SCOTT, C. I; FELDMAN, W et al.The Journal of pediatrics. 1984, Vol 104, Num 3, pp 342-348, issn 0022-3476Article

Long-term neurological sequelae in achondroplasiaHECHT, J. T; BUTLER, I. J; SCOTT, C. I. JR et al.European journal of pediatrics. 1984, Vol 143, Num 1, pp 58-60, issn 0340-6199Article

Myelography in achondroplasia: value of a lateral C1-2 puncture and non-ionic, water-soluble contrast mediumSUSS, R. A; UDVARHELYI, G. B; WANG, H et al.Radiology. 1983, Vol 149, Num 1, pp 159-163, issn 0033-8419Article

L'ACHONDROPLASIEMAROTEAUX P.1972; CONCOURS MED.; FR.; DA. 1972; VOL. 94; NO 39; PP. 6143-6152 (8P.); BIBL. 19REF.Serial Issue

ACHONDROPLASIA IN THE EMBRYONIC CHICK: ITS POTENTIATION BY CORTISONE ACETATE AND ALLEVIATION BY VITAMIN C = ACHONDROPLASIE CHEZ L'EMBRYON DE POULET. SA POTENTIALISATION PAR L'ACETATE DE CORTISONE ET SA DIMINUTION PAR LA VITAMINE CHALL BK.1972; CANAD. J. ZOOL.; CANADA; DA. 1972; VOL. 50; NO 12; PP. 1527-1536; BIBL. 1 P.Serial Issue

INTRADURALE SEQUESTRIERUNGLUMBALER DISKUSHERNIEN UNTER BESONDERER BERUECKSICHTIGUNG DER ACHONDROPLASIE = SEQUESTRATION INTRADURALE DES HERNIERS DISCALES LOMBAIRES (COMPTE TENU DE L'ACHONDROPLASIETHOMALSKE G; MOHR G.1974; NERVENARZT; DTSCH.; DA. 1974; VOL. 45; NO 7; PP. 376-379; BIBL. 11REF.Article

ACHONDROPLASIA = L'ACHONDROPLASIESILVERMAN FN.1973; PROGR. PEDIATR. RADIOL.; SWITZ.; DA. 1973; VOL. 4; PP. 94-124; BIBL. 1 P. 1/2Serial Issue

A NEW ESTIMATE OF THE ACHONDROPLASIA MUTATION RATE.GARDNER RJM.1977; CLIN. GENET.; DENM.; DA. 1977; VOL. 11; NO 1; PP. 31-38; BIBL. 15 REF.Article

ANESTHESIA FOR CESAREAN SECTION IN ACHONDROPLASTIC DWARFSCOHEN SE.1980; ANESTHESIOLOGY; USA; DA. 1980; VOL. 52; NO 3; PP. 264-266; BIBL. 6 REF.Article

CASE REPORT OF ACHONDROPLASIA = UN CAS D'ACHONDROPLASIEJENKINS DM; RILEY JE.1972; AMER. J. OBSTETR. GYNECOL.; U.S.A.; DA. 1972; VOL. 113; NO 8; PP. 1135-1137; BIBL. 11 REF.Article

SPINAL STENOSIS IN ACHONDROPLASIA = LE RETRECISSEMENT VERTEBRAL DANS L'ACHONDROPLASIENELSON MA.1972; PROC. R. SOC. MED.; G.B.; DA. 1972; VOL. 65; NO 11; PP. 1028-1029; BIBL. 9 REF.Serial Issue

Levels of creatine kinase activity in cartilage of tubular and nontubular bone in relation to pathogenesis of achondroplasiaNOGAMI, H; OOHIRA, A; OGASAWARA, N et al.Clinical orthopaedics and related research. 1987, Num 219, pp 308-311, issn 0009-921XArticle

The long and short of it: C-type naturietic peptide as a novel therapy for achondroplasia?BRUNHAM, L. R.Clinical genetics. 2004, Vol 65, Num 6, pp 458-459, issn 0009-9163, 2 p.Article

Cervical instability in an achondroplastic infantHAMMERSCHLAG, W; ZIV, I; WALD, U et al.Journal of pediatric orthopedics. 1988, Vol 8, Num 4, pp 481-484, issn 0271-6798Article

Conduite anesthésique d'un malade avec achondroplasieMIYAMOTO, M; HOASHI, S; IRIE, F et al.Masui. 1988, Vol 37, Num 3, pp 358-360, issn 0021-4892Article

A case report of achondroplasiaTANG DIAN-JUN.Chinese medical journal. 1986, Vol 99, Num 5, pp 429-430, issn 0366-6999Article

AchondroplasiaHORTON, William A; HALL, Judith G; HECHT, Jacqueline T et al.Lancet (British edition). 2007, Vol 370, Num 9582, pp 162-172, issn 0140-6736, 11 p.Article

Achondroplasia is defined by recurrent G308R mutations of FGFR3BELLUS, G. A; HEFFERON, T. W; ORTIZ DE LUNA, R. I et al.American journal of human genetics. 1995, Vol 56, Num 2, pp 368-373, issn 0002-9297Article

PROTEOGLYCANS AND GLYCOSAMINOGLYCANS OF HUMAN ACHONDROPLASTIC CARTILAGEPEDRINI MILLE A; PEDRINI V.1982; J. BONE JT. SURG. (AM. VOL.); ISSN 0021-9355; USA; DA. 1982; VOL. 64; NO 1; PP. 39-46; BIBL. 38 REF.Article

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