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Results 1 to 25 of 9415

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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 girl with the Pitt-Rogers-Danks syndromeOORTHUYS, J. W. E; BLEEKER-WAGEMAKERS, E. M.American journal of medical genetics. 1989, Vol 32, Num 1, pp 140-141, issn 0148-7299, 2 p.Article

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndromeBAMFORTH, J. S; LEONARD, C. O; CHODIRKER, B. N et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 93-99, issn 0148-7299, 7 p.Article

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 computerised data base for the diagnosis of rare dysmorphic syndromesWINTER, R. M; BARAITSER, M; DOUGLAS, J. M et al.Journal of medical genetics. 1984, Vol 21, Num 2, pp 121-123, issn 0022-2593Article

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

Malformation syndromes ― a diagnostic approachWINTER, R. M; BARAITSER, M.Archives of disease in childhood. 1984, Vol 59, Num 4, pp 294-295, issn 0003-9888Article

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

Myelodyspastic syndrome with complex cytogeneticsLAZO-LANGNER, Alejandro.Blood. 2012, Vol 120, Num 23, issn 0006-4971, p. 4458Article

Niikawa-Kuroki (Kabuki make-up) syndromeMULVIHILL, J. J; KAISER-KUPFER, M. I.American journal of medical genetics. 1989, Vol 33, Num 3, issn 0148-7299, 425Article

Cardiac involvement in Coffin-Lowry syndromeKRAJEWSKA-WALASEK, M; KUBICKA, K; RYZKO, J et al.European journal of pediatrics. 1988, Vol 147, Num 4, issn 0340-6199, 448Article

Síndrome de Werner = Le syndrome de Werner = The Werner syndromeMARQUES, L; MESQUITA-GUIMARAES, J; FERREIRA, M. R et al.Medicina cutánea ibero-latino-americana. 1987, Vol 15, Num 3, pp 208-212, issn 0210-5187Article

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

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

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