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1

Noncompaction of the ventricular myocardium in Melnick-Needles syndrome

Wong, Jeffrey A., Bofinger, Mary K.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 696 KB

english, 1997

2

A familial MCA/MR syndrome due to translocation t(10;16)(q26;p13.1): Report of six cases

Mary K. Bofinger, John M. Opitz, Shirley W. Soukup, Linda S. Ekblom, S. Phillips, Arthur Daniel, Edward W. Greene

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 793 KB

english, 1991

3

THE DETERMINATION OF VITAMIN B12-ACTIVITY IN THE ORGANS AND EXCRETA OF SHEEP

Dawbarn, Mary C, Hine, Denise C, Remilton, Elizabeth, Bofinger, Eveline

Journal:

Immunology & Cell Biology

Year:

1954

Language:

english

File:

PDF, 5.16 MB

english, 1954

4

The third conference on the clinical delineation of birth defects. Part X. The endocrine system. D. Bergsma, ed. Williams and Wilkins, Baltimore. 330 pp. 1971

Mary K. Bofinger

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1973

Language:

english

File:

PDF, 96 KB

english, 1973

5

Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling

Josef Warkany, Mary K. Bofinger, Corning Benton

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1973

Language:

english

File:

PDF, 897 KB

english, 1973

6

Intellectual Development and Academic Achievement of Children Treated Early for Phenylketonuria

Helen K. Berry, Donald J. O'Grady, Lorraine J. Perlmutter, Mary K. Bofinger

Journal:

Developmental Medicine & Child Neurology

Year:

1979

Language:

english

File:

PDF, 694 KB

english, 1979

7

Strokes, Cutis Marmorata Telangiectatica Congenita, and Factor V Leiden

Ralph A Gruppo MD, Ton J DeGrauw MD, Susan Palasis MD, Karen A Kalinyak MD, Mary K Bofinger MD

Journal:

Pediatric Neurology

Year:

1998

Language:

english

File:

PDF, 325 KB

english, 1998

8

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

Robert J. Hopkin, Elizabeth K. Schorry, Mary Bofinger, Howard M. Saal

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

9

Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote

Charles H. Wharton, Helen K. Berry, Mary K. Bofinger

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 330 KB

english, 1978

10

Comparative diagnostic value of phenyla-lanine challenge and phenylalanine hydroxylase activity in phenylketonuria

Monica C. Hsieh, Helen K. Berry, Mary K. Bofinger, Pamela J. Phillips, Mary Beth Guilfoile, Melanie M. Hunt

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 465 KB

english, 1983

11

Reduction of Cerebrospinal Fluid Phenylalanine after Oral Administration of Valine, Isoleucine, and Leucine

Berry, Helen K, Bofinger, Mary K, Hunt, Melanie M, Phillips, Pamela J, Guilfoile, Mary B

Journal:

Pediatric Research

Year:

1982

Language:

english

File:

PDF, 370 KB

english, 1982

12

Pathologic Features of the eye in Down's Syndrome with Relationship to Other Chromosomal Anomalies

Ginsberg, Joseph, Bofinger, Mary K., Roush, James R.

Journal:

American Journal of Ophthalmology

Year:

1977

Language:

english

File:

PDF, 583 KB

english, 1977

13

Reduction Malformations and Chromosome Anomalies

Bofinger, Mary K.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1973

Language:

english

File:

PDF, 6.60 MB

english, 1973

14

Cat Eye Syndrome

Bofinger, Mary K.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1977

Language:

english

File:

PDF, 2.91 MB

english, 1977

15

Premature closure of foramen ovale and renal vein thrombosis in a stillborn twin homozygous for methylene tetrahydrofolate reductase gene polymorphism: A clinicopathologic case study

Stanek, Jerzy, Bove, Kevin E., Bofinger, Mary, Needham, Denise, Saldana, Luis R., Mutema, George K., Meyer, Richard

Journal:

Journal of Perinatal Medicine

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

16

Ultrasound and Genetic Features of a Term Triploid Pregnancy

Wasserman, Sheldon, Bofinger, Mary, Saldana, Luis

Journal:

American Journal of Perinatology

Year:

1991

Language:

english

File:

PDF, 914 KB

english, 1991

17

Turner syndrome with a familial translocation (X;11)

Bofinger, Mary K., Soukup, Shirley S., Kelm, Margaret

Journal:

Adolescent and Pediatric Gynecology

Year:

1989

Language:

english

File:

PDF, 1.02 MB

english, 1989

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