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2. Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature. Selvaag E Eur J Dermatol; 2000 Mar; 10(2):91-7. PubMed ID: 10694305 [TBL] [Abstract][Full Text] [Related]
3. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967 [TBL] [Abstract][Full Text] [Related]
4. Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. Apak S; Yüksel M; Ozmen M; Saka N; Darendeliler F; Neuhäuser G Am J Med Genet; 1989 Oct; 34(2):155-8. PubMed ID: 2816991 [TBL] [Abstract][Full Text] [Related]
5. New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters. Kaler SG; Garrity AM; Stern HJ; Rosenbaum KN; Orrison BM; Marini JC; Bernardini I; Saal HM Am J Med Genet; 1992 Aug; 43(6):983-8. PubMed ID: 1415349 [TBL] [Abstract][Full Text] [Related]
6. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. Pascual-Castroviejo I; Gutierrez M; Morales C; Gonzalez-Mediero I; Martínez-Bermejo A; Pascual-Pascual SI Neuropediatrics; 1994 Aug; 25(4):183-90. PubMed ID: 7824090 [TBL] [Abstract][Full Text] [Related]
7. Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. Boor R; Herwig J; Schrezenmeir J; Pontz BF; Schönberger W Am J Med Genet; 1993 Mar; 45(5):649-53. PubMed ID: 8456839 [TBL] [Abstract][Full Text] [Related]
8. [Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome]. Boudhina T; Yedes A; Khiari S; Ghram N; Ben Becher S; Makni S; Ben Jemaa M; Hamza M Ann Pediatr (Paris); 1990 Jun; 37(6):399-403. PubMed ID: 2400194 [TBL] [Abstract][Full Text] [Related]
9. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Pallister PD; Opitz JM Am J Med Genet; 1979; 4(3):239-46. PubMed ID: 517579 [TBL] [Abstract][Full Text] [Related]
10. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Mustapha M; Chouery E; Chardenoux S; Naboulsi M; Paronnaud J; Lemainque A; Mégarbané A; Loiselet J; Weil D; Lathrop M; Petit C Eur J Hum Genet; 2002 Mar; 10(3):210-2. PubMed ID: 11973626 [TBL] [Abstract][Full Text] [Related]
11. Joubert syndrome. Solomon R; Jana AK; Singh S; Biswas A Indian Pediatr; 2001 Sep; 38(9):1045-9. PubMed ID: 11568384 [No Abstract] [Full Text] [Related]
17. Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. Sharp CW; Muir WJ; Blackwood DH; Walker M; Gosden C; St Clair DM Am J Med Genet; 1994 Dec; 54(4):354-60. PubMed ID: 7726208 [TBL] [Abstract][Full Text] [Related]
18. Familial auditory neuropathy. Wang Q; Gu R; Han D; Yang W Laryngoscope; 2003 Sep; 113(9):1623-9. PubMed ID: 12972945 [TBL] [Abstract][Full Text] [Related]
19. Woodhouse-Sakati syndrome: case report and symptoms review. Medica I; Sepcić J; Peterlin B Genet Couns; 2007; 18(2):227-31. PubMed ID: 17710875 [TBL] [Abstract][Full Text] [Related]
20. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients. Mendez HM; Paskulin GA; Vallandro C Am J Med Genet; 1985 Oct; 22(2):223-8. PubMed ID: 4050854 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]