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Results 1 to 25 of 5810

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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

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

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

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

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

Syndromology: an updated conceptual overview. II: Syndrome classificationsCOHEN, M. M. JR.International journal of oral and maxillofacial surgery. 1989, Vol 18, Num 4, pp 223-228, issn 0901-5027Article

Diminished radial count is found only postnatally in Down's syndromeCOONEY, P. J; WENTWORTH, P. J; THURLBECK, W. M et al.Pediatric pulmonology. 1988, Vol 5, Num 4, pp 204-209, issn 8755-6863Article

Connections between traditional chinese medicine and congenital syndromesLI-LING, Jesse.American journal of medical genetics. 2001, Vol 103, Num 3, pp 257-262, issn 0148-7299Article

Le syndrome de Werner = Werner's syndromePIUSSAN, C.Archives françaises de pédiatrie. 1992, Vol 49, Num 7, pp 647-655, issn 0003-9764Article

Congenital cataracts in mother, siter, and son of a patient with Hallermann-Streiff syndrome : coincidence or clue ?HARROD, M. J; FRIEDMAN, J. M.American journal of medical genetics. 1991, Vol 41, Num 4, pp 500-502, issn 0148-7299Conference Paper

Hallermann-Streiff syndrome : a reviewCOHEN, M. M.American journal of medical genetics. 1991, Vol 41, Num 4, pp 488-499, issn 0148-7299Conference Paper

The H SyndromeEL-KHATEEB, Ekramy A.Pediatric dermatology. 2010, Vol 27, Num 1, pp 65-68, issn 0736-8046, 4 p.Article

Transcription-related human disordersCLEAVER, J. E; HULTNER, M. L.American journal of human genetics. 1995, Vol 56, Num 6, pp 1257-1261, issn 0002-9297Article

ProgeriaBADAME, A. J.Archives of dermatology (1960). 1989, Vol 125, Num 4, pp 540-544, issn 0003-987XArticle

Multiple Pterygium syndrome: an overviewRAMER, J. C; LADDA, R. L; DEMUTH, W. W et al.American journal of diseases of children (1960). 1988, Vol 142, Num 7, pp 794-798, issn 0002-922XArticle

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndromeDONNENFELD, A. E; CONARD, K. A; ROBERTS, N. S et al.American journal of medical genetics. 1987, Vol 27, Num 1, pp 159-173, issn 0148-7299Article

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