Lipid storage myopathy associated with scoliosis and multiple joint contracturesNOGAMI, H; OGASAWARA, N; KASAI, T et al.Acta neuropathologica. 1983, Vol 61, Num 3-4, pp 305-310, issn 0001-6322Article

Tetraploidy in a 15-month-old girlSHIONO, H; AZUMI, J; FUJIWARA, M et al.American journal of medical genetics. 1988, Vol 29, Num 3, pp 543-547, issn 0148-7299Article

Instructional case: amelia and scoliosisHERRING, J. A; GOLDBERG, M. J.Journal of pediatric orthopedics. 1985, Vol 5, Num 5, pp 605-609, issn 0271-6798Article

Duplication 9q34 syndromeALLDERDICE, P. W; EALES, B; ONYETT, H et al.American journal of human genetics. 1983, Vol 35, Num 5, pp 1005-1019, issn 0002-9297Article

Empirical recurrence risk after unidentified multiple congenital abnormalitiesCZEIZEL, A; METNEKI, J.Journal of medical genetics. 1983, Vol 20, Num 5, pp 367-371, issn 0022-2593Article

Is reserpine a human teratogen?PAULI, R. M; PETTERSEN, B. J.Journal of medical genetics. 1986, Vol 23, Num 3, pp 267-268, issn 0022-2593Article

Syndrome oto-palato-digital de type II = Oto-palato-digital type II syndromeKAPLAN, J; MAROTEAUX, P.Annales de génétique (Paris). 1984, Vol 27, Num 2, pp 79-82, issn 0003-3995Article

Anomalies chromosomiques équilibrées avec phénotype anormal = Balanced chromosomal rearrangements and abnormal phenotypeFRYNS, J.-P.Journal de génétique humaine. 1988, Vol 36, Num 1-2, pp 33-36, issn 0021-7743Conference Paper

Remaniements chromosomiques équilibrés à phénotype anormal = Balanced chromosomal rearrangements and abnormal phenotypePHILIP, N; MATTEI, M. G; PELLISSIER, M. C et al.Journal de génétique humaine. 1988, Vol 36, Num 1-2, pp 37-43, issn 0021-7743Conference Paper

Ring chromosome 6: variability in phenotypic expressionPEEDEN, J. N; SCARBROUGH, P; TAYSI, K et al.American journal of medical genetics. 1983, Vol 16, Num 4, pp 563-573, issn 0148-7299Article

Occurence of 19p- in an infant with multiple dysmorphic featuresHURGOIU, V; SUCIU, S.Annales de génétique (Paris). 1984, Vol 27, Num 1, pp 56-57, issn 0003-3995Article

Abnormal hematologic findings in triploidySADOWITZ, P. D; BALCOLM, R; GORDON, L et al.Clinical pediatrics. 1984, Vol 23, Num 11, pp 641-643, issn 0009-9228Article

Agenesis of the lung: report of four patients with unusual anomaliesMARDINI, M. K; NYHAN, W. L.Chest. 1985, Vol 87, Num 4, pp 522-527, issn 0012-3692Article

Diploid-triploid mosaicism: delineation of the syndromeTHARAPEL, A. T; WILROY, R. S; MARTENS, P. R et al.Annales de génétique (Paris). 1983, Vol 26, Num 4, pp 229-233, issn 0003-3995Article

Intérêt du diagnostic anténatal dans la prise en charge pédiatrique des enfants porteurs d'anomalies congénitales = Interest of prenatal diagnosis for the early treatment of the newborn with congenital anomaliesKOSSMANN, J. C; DODAT, H; RUDIGOZ, R. C et al.Lyon médical. 1983, Vol 250, Num 13, pp 55-58, issn 0024-7790Article

Syndrome héréditaire avec ectrodactylie, insuffisance du développement cardiaque, fissure du palais et des lèvresPATYUTKO, R. S; KOZLOVA, S. I.Genetika. 1983, Vol 19, Num 7, pp 1198-1204, issn 0016-6758Article

DE NOVO del(3)(q2800)ALVAREZ ARRATIA, M. C; RIVERA, H; MOLLER, M et al.Annales de génétique (Paris). 1984, Vol 27, Num 2, pp 109-111, issn 0003-3995Article

Chromosome 4q deletion syndrome: a case reportBERGER, A; DAR, H; REITER, A et al.Israel journal of medical sciences. 1983, Vol 19, Num 9, pp 850-852, issn 0021-2180Article

Fetal cystic hygroma. Cause and natural historyCHERVENAK, F. A; ISAACSON, G; BLAKEMORE, K. J et al.The New England journal of medicine. 1983, Vol 309, Num 14, pp 822-825, issn 0028-4793Article

Duplications of the alimentary tract: clinical characteristics, preferred treatment, and associated malformationsILDSTAD, S. T; TOLLERUD, D. J; WEISS, R. G et al.Annals of surgery. 1988, Vol 208, Num 2, pp 184-189, issn 0003-4932Article

Prenatal diagnosis of Pena-Shokeir syndrome type 1MACMILLAN, R. H; HARBERT, G. M; DAVIS, W. D et al.American journal of medical genetics. 1985, Vol 21, Num 2, pp 279-284, issn 0148-7299Article

Der Phänotyp der Trisomie 9 = Le phénotype de la trisomie 9 = Trisomy 9 phenotypePFEIFFER, R. A; MÜLLER, R.Monatsschrift für Kinderheilkunde. 1984, Vol 132, Num 10, pp 797-800, issn 0026-9298Article

Chromosome 18 aneuploidy-anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18URBAN, B; BERSU, E. T.American journal of medical genetics. 1987, Vol 27, Num 2, pp 425-434, issn 0148-7299Article

Recurrence risks in the presence of single gene susceptibility to environmental agentsKHOURY, M. J; BEATY, T. H.American journal of medical genetics. 1987, Vol 28, Num 1, pp 159-169, issn 0148-7299Article

The phenotypic and cytogenetic spectrum of partial trisomy 9WILSON, G. N; RAJ, A; BAKER, D et al.American journal of medical genetics. 1985, Vol 20, Num 2, pp 277-282, issn 0148-7299Article