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4. The urofacial (Ochoa) syndrome--first case in the central European population. Skálová S; Rejtar I; Novák I; Jüttnerová V Prague Med Rep; 2006; 107(1):125-9. PubMed ID: 16752812 [TBL] [Abstract][Full Text] [Related]
6. Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). Wang CY; Shi JD; Huang YQ; Cruz PE; Ochoa B; Hawkins-Lee B; Davoodi-Semiromi A; She JX Genomics; 1999 Aug; 60(1):12-9. PubMed ID: 10458906 [TBL] [Abstract][Full Text] [Related]
8. From facial emotional recognition abilities to emotional attribution: a study in Down syndrome. Hippolyte L; Barisnikov K; Van der Linden M; Detraux JJ Res Dev Disabil; 2009; 30(5):1007-22. PubMed ID: 19297130 [TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. Miny P; Lenz W Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313 [TBL] [Abstract][Full Text] [Related]
10. An unusual syndrome in a family with cataracts and abnormal facies. Parsons G; Watt P P N G Med J; 1984 Jun; 27(2):110. PubMed ID: 6598547 [No Abstract] [Full Text] [Related]
11. A distinctive facial appearance in neurofibromatosis von Recklinghausen. Kaplan P; Rosenblatt B Am J Med Genet; 1985 Jul; 21(3):463-70. PubMed ID: 3927724 [TBL] [Abstract][Full Text] [Related]
12. Facial features in children with the 22q11 deletion syndrome. Oskarsdóttir S; Holmberg E; Fasth A; Strömland K Acta Paediatr; 2008 Aug; 97(8):1113-7. PubMed ID: 18482168 [TBL] [Abstract][Full Text] [Related]
13. Facial expression of affect in children with Cornelia de Lange syndrome. Collis L; Moss J; Jutley J; Cornish K; Oliver C J Intellect Disabil Res; 2008 Mar; 52(Pt 3):207-15. PubMed ID: 18261020 [TBL] [Abstract][Full Text] [Related]
14. [Urinary manifestations of Wolfram's syndrome]. François P; Van Nhan N; Levy G; Grataloup G; Faure G; Bost M Pediatrie; 1982 Mar; 37(2):119-24. PubMed ID: 7099869 [No Abstract] [Full Text] [Related]
15. [Williams-Beuren syndrome. Description of a case with bifid uvula]. Pilotti G; Sala U; Kreitmaier U; Spada M; Tappi E Minerva Pediatr; 1987 Feb; 39(3-4):147-50. PubMed ID: 3587194 [No Abstract] [Full Text] [Related]
16. [Robinow syndrome (fetal-face dwarfism). Presentation of a case and review of the literature]. Rodríguez Costa T; García De León R; Casas Fernández C; Puche Mira A; Pérez Bryan J An Esp Pediatr; 1984 Jan; 20(1):55-61. PubMed ID: 6703533 [TBL] [Abstract][Full Text] [Related]
17. [Aarskog's syndrome: study of a new familial group]. Baroncini A; Neri C; Forabosco A Pathologica; 1983; 75 Suppl():153-6. PubMed ID: 6151166 [No Abstract] [Full Text] [Related]
18. [Beuren-Williams syndrome: study of 20 cases]. Jordán Martínez J; Fullana Montoro A; Ortiz Ramos P; Pérez Martínez V An Esp Pediatr; 1986 May; 24(5):291-7. PubMed ID: 3740663 [TBL] [Abstract][Full Text] [Related]
19. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Halal F; Gledhill R; Dudkiewicz A Am J Med Genet; 1989 Jul; 33(3):376-81. PubMed ID: 2801772 [TBL] [Abstract][Full Text] [Related]
20. [The Williams and Beuren syndrome: aspects of the elfin facies]. Bezzi TM; Bergamini M; Scorrano M; Pinca A Pediatria (Napoli); 1983; 91(2-3):281-6. PubMed ID: 6664736 [No Abstract] [Full Text] [Related] [Next] [New Search]