Liberfarb, Ruth: search on Z-Library

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1

Thoracolumbar Spinal Abnormalities in Stickler Syndrome

Rose, Peter S., Ahn, Nicholas U., Levy, Howard P., Ahn, Uri M., Davis, Joie, Liberfarb, Ruth M., Nallamshetty, Leelakrishna, Sponseller, Paul D., Francomano, Clair A.

Journal:

Year:

2001

Language:

english

File:

PDF, 984 KB

english, 2001

2

Norrie's Disease: A Study of Two Families

Liberfarb, Ruth M., Eavey, Roland D., De Long, G. Robert, Albert, Daniel M., Dieckert, J. Paul, Hirose, Tatsuo

Journal:

Year:

1985

Language:

english

File:

PDF, 1.97 MB

english, 1985

3

Otolaryngological manifestations of the Stickler syndrome

James W. Lucarini, Ruth M. Liberfarb, Roland D. Eavey

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

1987

Language:

english

File:

PDF, 1.91 MB

english, 1987

4

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families

Ruth M. Liberfarb, W. Roy Breg, Leonard Atkins, Lewis B. Holmes

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 583 KB

english, 1979

5

The Wagner-Stickler syndrome: A study of 22 families

Ruth M. Liberfarb, Tatsuo Hirose, Lewis B. Holmes

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 1.35 MB

english, 1981

6

10.1097/00004694-200109000-00020

Rose, Peter, Ahn, Nicholas, Levy, Howard, Magid, Donna, Davis, Joie, Liberfarb, Ruth, Sponseller, Paul, Francomano, Clair

Journal:

Journal of Pediatric Orthopaedics

Year:

2001

Language:

english

File:

PDF, 1.37 MB

english, 2001

7

533 WAGNER-STICKLER SYNDRCME: A GENETIC STUDY

Liberfarb, Ruth M, Hirose, Tatsuo, Holmes, Lewis B

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 157 KB

english, 1978

8

Incidence and Significance of a Deletion of Chromosome Band 13q14 in Patients with Retinoblastoma and in Their Families

Liberfarb, Ruth M., Bustos, Tania, Miller, Wayne A., Sang, Delia

Journal:

Year:

1984

Language:

english

File:

PDF, 592 KB

english, 1984

9

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.

Journal:

American Journal of Otolaryngology

Year:

1990

Language:

english

File:

PDF, 14.33 MB

english, 1990

10

Distinctive Cataract in the Stickler Syndrome

Seery, Christopher M., Pruett, Ronald C., Liberfarb, Ruth M., Cohen, Ben Z.

Journal:

American Journal of Ophthalmology

Year:

1990

Language:

english

File:

PDF, 1.21 MB

english, 1990

11

Down syndrome in two of three triplets

Ruth M. Liberfarb, Leonard Atkins, Lewis B. Holmes

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 255 KB

english, 1978

12

Stage 5 Retinopathy of Prematurity

Jabbour, Nabil M., Eller, Andrew E., Hirose, Tatsuo, Schepens, Charles L., Liberfarb, Ruth

Journal:

Year:

1987

Language:

english

File:

PDF, 2.21 MB

english, 1987

13

Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene

Wiggs, Janey, Nordenskjöld, Magnus, Yandell, David, Rapaport, Joyce, Grondin, Valerie, Janson, Marie, Werelius, Barbro, Petersen, Robert, Craft, Alan, Riedel, Klaus, Liberfarb, Ruth, Walton, David, Wi

Journal:

Boston Medical and Surgical Journal

Year:

1988

Language:

english

File:

PDF, 2.56 MB

english, 1988

14

The Hip in Stickler Syndrome

Rose, Peter S., Ahn, Nicholas U., Levy, Howard P., Magid, Donna, Davis, Joie, Liberfarb, Ruth M., Sponseller, Paul D., Francomano, Clair A.

Journal:

Journal of Pediatric Orthopaedics

Year:

2001

Language:

english

File:

PDF, 1.37 MB

english, 2001

15

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

Journal:

Genetics in Medicine

Year:

2003

Language:

english

File:

PDF, 306 KB

english, 2003

16

Usher's Syndrome: What It Is, How to Cope, and How to Help

Liberfarb, Ruth M.

Journal:

Archives of Ophthalmology

Year:

1989

Language:

english

File:

PDF, 184 KB

english, 1989

17

Hereditary Progressive Arthro-Ophthalmopathy of Stickler

Blair, Norman P., Albert, Daniel M., Liberfarb, Ruth M., Hirose, Tatsuo

Journal:

American Journal of Ophthalmology

Year:

1979

Language:

english

File:

PDF, 3.10 MB

english, 1979

18

Stickler syndrome: Clinical characteristics and diagnostic criteria

Peter S. Rose, Howard P. Levy, Ruth M. Liberfarb, Joie Davis, Y. Szymko-Bennett, Benjamin I. Rubin, Ekaterini Tsilou, Andrew J. Griffith, Clair A. Francomano

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

19

Prevalence of mitral-valve prolapse in the Stickler syndrome

Ruth M. Liberfarb, Allan Goldblatt, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 466 KB

english, 1986

20

Auditory Dysfunction in Stickler Syndrome

Szymko-Bennett, Yvonne M., Mastroianni, Mary A., Shotland, Lawrence I., Davis, Joie, Ondrey, Frank G., Balog, Joan Z., Rudy, Susan F., McCullagh, Linda, Levy, Howard P., Liberfarb, Ruth M., Francomano

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2001

Language:

english

File:

PDF, 212 KB

english, 2001

21

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons

Douglas J. Wilkin, Ruth Liberfarb, Joie Davis, Howard P. Levy, William G. Cole, Clair A. Francomano, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 1.48 MB

english, 2000

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