Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndromeCHEN, H; IMMKEN, L; GILBERT, E. F et al.American journal of medical genetics. 1984, Vol 17, Num 4, pp 809-826, issn 0148-7299Article

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosisCLAYTON-SMITH, J; DONNAI, D.Journal of medical genetics. 1989, Vol 26, Num 5, pp 339-342, issn 0022-2593, 4 p.Article

GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible new recessively inherited MCA/MR syndromeVERLOES, A; DELFORTRIE, J; LAMBOTTE, C et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 15-18, issn 0148-7299, 4 p.Article

A combinatorial method for grouping cases with multiple malformationsWINTER, R. M; CLARK, R. D; ASHLEY, K et al.Journal of medical genetics. 1988, Vol 25, Num 2, pp 118-121, issn 0022-2593Article

Lymphedema in Noonan's syndromeWHITE, S. W.International journal of dermatology. 1984, Vol 23, Num 10, pp 656-657, issn 0011-9059Article

Carpenter syndrome: natural history and clinical spectrumROBINSON, L. K; JAMES, H. E; MUBARAK, S. J et al.American journal of medical genetics. 1985, Vol 20, Num 3, pp 461-469, issn 0148-7299Article

Sixty-four patients with Brachmann-de Lange syndrome: a surveyHAWLEY, P. P; JACKSON, L. G; KURNIT, D. M et al.American journal of medical genetics. 1985, Vol 20, Num 3, pp 453-459, issn 0148-7299Article

Syndromology: an updated conceptual overview. X : ReferencesCOHEN, M. M. JR.International journal of oral and maxillofacial surgery. 1990, Vol 19, Num 2, pp 89-96, issn 0901-5027Article

Trigonocephaly and the Opitz C syndromeSARGENT, C; BURN, J; BARAITSER, M et al.Journal of medical genetics. 1985, Vol 22, Num 1, pp 39-45, issn 0022-2593Article

Mauriac' syndrome revisitedTRAISMAN, H. S; TRAISMAN, E. S.European journal of pediatrics. 1984, Vol 142, Num 4, pp 296-297, issn 0340-6199Article

Syndromology: an updated conceptual overview. III: Syndrome delineationCOHEN, M. M. JR.International journal of oral and maxillofacial surgery. 1989, Vol 18, Num 5, pp 281-285, issn 0901-5027Article

Nanisme microcéphalique, arriération sévère, hypertonie, obésité et hypog&nitalisme chez deux frères : un nouveau syndrome? = Two brothers with severe mental and growth retardation, microcephaly, hypertonicity, obesity and hypogenitalism: a new syndromeDELOZIER-BLANCHET, C. D; HAENGGELI, C. A; ENGEL, E et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 353-365, issn 0021-7743, 13 p.Article

Weaver-Smith syndrome. A case study with long-term follow-upAMIR, N; GROSS-KIESELSTEIN, E; HIRSCH, H. J et al.American journal of diseases of children (1960). 1984, Vol 138, Num 12, pp 1113-1117, issn 0002-922XArticle

Additional EFNB1 Mutations in Craniofrontonasal SyndromeWALLIS, Deeann; LACBAWAN, Felicitas; CAREY, John C et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 15, pp 2008-2012, issn 1552-4825, 5 p.Article

Respiratory aspects of Shwachman's syndrome in adultsWIGGINS, J; GEDDES, D. M.The European respiratory journal. 1989, Vol 2, Num 3, pp 285-288, issn 0903-1936Article

Keutel syndrome: a report of four casesKHOSROSHAHI, H. E; ULUOGLU, O; OLGUNTURK, R et al.European journal of pediatrics. 1989, Vol 149, Num 3, pp 188-191, issn 0340-6199, 4 p.Article

Impact of complex genetic conditions on public healthVOGEL, F.Clinical genetics. 1989, Vol 36, Num 5, pp 392-404, issn 0009-9163, 13 p.Conference Paper

Bleeding diathesis in Noonan syndrome: a common associationWITT, D. R; MCGILLIVRAY, B. C; ALLANSON, J. E et al.American journal of medical genetics. 1988, Vol 31, Num 2, pp 305-317, issn 0148-7299Article

Clinical heterogeneity in the tricho-dento-osseous syndromeQUATTROMANI, F; SHAPIRO, S. D; YOUNG, R. S et al.Human genetics. 1983, Vol 64, Num 2, pp 116-121, issn 0340-6717Article

Cowden syndrome: clinical and pathological considerations in two new casesBAGAN, J. V; PENARROCHA, M; VERA-SEMPERE, F et al.Journal of oral and maxillofacial surgery. 1989, Vol 47, Num 3, pp 291-294, issn 0278-2391Article

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsNIIKAWA, N; KUROKI, Y; IWAMA, Y et al.American journal of medical genetics. 1988, Vol 31, Num 3, pp 565-589, issn 0148-7299Article

New syndromes from old: evaluation of heterogeneity and variability in syndrome definition and delineationTORIELLO, H. V.American journal of medical genetics. Supplement. 1988, Num 4, pp 55-70, issn 1040-3787Article

Gamut: congenital syndromes with congenital heart diseaseO'BRIEN, K.Seminars in roentgenology. 1985, Vol 20, Num 2, pp 104-105, issn 0037-198XArticle

Acrofacial dysostosis with severe facial clefting and limb reductionKAWIRA, E. L; WEAVER, D. D; BENDER, H. A et al.American journal of medical genetics. 1984, Vol 17, Num 3, pp 641-647, issn 0148-7299Article

Abundant Pleiotropy in Human Complex Diseases and TraitsSIVAKUMARAN, Shanya; AGAKOV, Felix; THEODORATOU, Evropi et al.American journal of human genetics. 2011, Vol 89, Num 5, pp 607-618, issn 0002-9297, 12 p.Article