The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
Liberfarb, Ruth M., Levy, Howard P., Rose, Peter S., Wilkin, Douglas J., Davis, Joie, Balog, Joan Z., Griffith, Andrew J., Szymko-Bennett, Yvonne M., Johnston, Jennifer J., Francomano, Clair A.
Published in Genetics in medicine (01.01.2003)
Published in Genetics in medicine (01.01.2003)
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Journal Article
Thoracolumbar spinal abnormalities in Stickler syndrome
Rose, P S, Ahn, N U, Levy, H P, Ahn, U M, Davis, J, Liberfarb, R M, Nallamshetty, L, Sponseller, P D, Francomano, C A
Published in Spine (Philadelphia, Pa. 1976) (15.02.2001)
Published in Spine (Philadelphia, Pa. 1976) (15.02.2001)
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Journal Article
Distinctive cataract in the Stickler syndrome
Seery, C M, Pruett, R C, Liberfarb, R M, Cohen, B Z
Published in American journal of ophthalmology (15.08.1990)
Published in American journal of ophthalmology (15.08.1990)
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Journal Article
The hip in Stickler syndrome
Rose, P S, Ahn, N U, Levy, H P, Magid, D, Davis, J, Liberfarb, R M, Sponseller, P D, Francomano, C A
Published in Journal of pediatric orthopaedics (01.09.2001)
Published in Journal of pediatric orthopaedics (01.09.2001)
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Journal Article
Norrie disease gene is distinct from the monoamine oxidase genes
SIMS, K. B, OZELIUS, L, MURPHY, D. L, GUSELLA, J, BREAKEFIELD, X. O, COREY, T, RINEHART, W. G, LIBERFARB, R, HAINES, J, WEI JANE CHEN, NORIO, R, SANKILA, E, DE LA CHAPELLE, A
Published in American journal of human genetics (01.09.1989)
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Published in American journal of human genetics (01.09.1989)
Journal Article
Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)
Nadol, Joseph B., Eavey, Roland D., Liberfarb, Ruth M., Merchant, Saumil N., Williams, Roger, Climenhager, David, Albert, Daniel M.
Published in American journal of otolaryngology (01.03.1990)
Published in American journal of otolaryngology (01.03.1990)
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Journal Article
Otolaryngological manifestations of the Stickler syndrome
Lucarini, James W., Liberfarb, Ruth M., Eavey, Roland D.
Published in International journal of pediatric otorhinolaryngology (01.12.1987)
Published in International journal of pediatric otorhinolaryngology (01.12.1987)
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Journal Article
Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency
Liberfarb, R M, Jackson, A H, Eavey, R D, Robb, R M
Published in Journal of child neurology (01.07.1993)
Published in Journal of child neurology (01.07.1993)
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Journal Article
Norrie's disease: a study of two families
Liberfarb, R M, Eavey, R D, De Long, G R, Albert, D M, Dieckert, J P, Hirose, T
Published in Ophthalmology (Rochester, Minn.) (01.10.1985)
Published in Ophthalmology (Rochester, Minn.) (01.10.1985)
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Journal Article
The Wagner-Stickler syndrome: A study of 22 families
Liberfarb, Ruth M., Hirose, Tatsuo, Holmes, Lewis B.
Published in The Journal of pediatrics (01.09.1981)
Published in The Journal of pediatrics (01.09.1981)
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