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8. A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). De La Paz MA; Lewis RA; Patrinely JR; Merin L; Greenberg F Am J Ophthalmol; 1991 Nov; 112(5):572-80. PubMed ID: 1951596 [TBL] [Abstract][Full Text] [Related]
9. Ocular and genetic features of Cockayne's syndrome. Pearce WG Can J Ophthalmol; 1972 Oct; 7(4):435-44. PubMed ID: 4652816 [No Abstract] [Full Text] [Related]
11. Eye abnormalities and skeletal deformities in the Pierre Robin syndrome: a balanced evaluation. Cosman B; Keyser JJ Cleft Palate J; 1974 Oct; 11():404-11. PubMed ID: 4215597 [No Abstract] [Full Text] [Related]
12. Diastrophic dwarfism. Walker BA; Scott CI; Hall JG; Murdoch JL; McKusick VA Medicine (Baltimore); 1972 Jan; 51(1):41-59. PubMed ID: 4621588 [No Abstract] [Full Text] [Related]
13. Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. Millichap JJ; Nguyen T; Ryan ME Neurology; 2010 Jun; 74(22):e101. PubMed ID: 20513809 [No Abstract] [Full Text] [Related]
14. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Teber S; Sezer T; Kafali M; Manzini MC; Konuk Yüksel B; Tekin M; Fitöz S; Walsh CA; Deda G Eur J Paediatr Neurol; 2008 Mar; 12(2):133-6. PubMed ID: 17881266 [TBL] [Abstract][Full Text] [Related]
15. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Ricker K; Koch MC; Lehmann-Horn F; Pongratz D; Otto M; Heine R; Moxley RT Neurology; 1994 Aug; 44(8):1448-52. PubMed ID: 8058147 [TBL] [Abstract][Full Text] [Related]
16. [Limb pain and pain in extremities]. Kerleau K; Lévesque H Rev Prat; 2005 Jan; 55(1):97-102. PubMed ID: 15801405 [No Abstract] [Full Text] [Related]
17. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. Shabo G; Scheffer H; Cruysberg JR; Lammens M; Pasman JW; Spruit M; Willemsen MA Pediatr Neurol; 2005 Oct; 33(4):277-9. PubMed ID: 16194727 [TBL] [Abstract][Full Text] [Related]
18. Electromyographic characteristics of congenital and early onset motor unit diseases. Fowler WM; Taylor RG; Munsat TL Arch Phys Med Rehabil; 1971 Aug; 52(8):343-61. PubMed ID: 5284447 [No Abstract] [Full Text] [Related]
19. [Intrafamilial variability of several typical malformations]. GREBE H; WIEDEMANN HR Acta Genet Med Gemellol (Roma); 1953 May; 2(2):203-24. PubMed ID: 13057543 [No Abstract] [Full Text] [Related]
20. The cardiopathy of mulibrey nanism, a new inherited syndrome. Tuuteri L; Perheentupa J; Rapola J Chest; 1974 Jun; 65(6):628-31. PubMed ID: 4275521 [No Abstract] [Full Text] [Related] [Next] [New Search]