Volume 10; Issue 5

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Genetics in Medicine
Volume 10; Issue 5

Genetics in Medicine

Volume 10; Issue 5

1

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations

Mikula, Mario, Buller, Arlene, Sun, Weimin, Strom, Charles M

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

2

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program

Faucett, William Andrew, Hart, Suzanne, Pagon, Roberta A, Neall, Lisa Forman, Spinella, Giovanna

Journal:

Genetics in Medicine

Year:

2008

File:

PDF, 190 KB

2008

3

Gene patenting and licensing: the role of academic researchers and advocacy groups

Ledbetter, David H

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 308 KB

english, 2008

4

Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

Phillips, John A, Poling, Justin S, Phillips, Charles A, Stanton, Krista C, Austin, Eric D, Cogan, Joy D, Wheeler, Lisa, Yu, Chang, Newman, John H, Dietz, Harry C, Loyd, James E

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 668 KB

english, 2008

5

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program

Faucett, William Andrew, Hart, Suzanne, Pagon, Roberta A, Neall, Lisa Forman, Spinella, Giovanna

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 190 KB

english, 2008

6

New quality assurance standards for rare disease testing

Grody, Wayne W, Richards, C Sue

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

7

Developing a national collaborative study system for rare genetic diseases

Watson, Michael S, Epstein, Charles, Howell, R Rodney, Jones, Marilyn C, Korf, Bruce R, McCabe, Edward R B, Simpson, Joe Leigh

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 160 KB

english, 2008

8

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory

Das, S, Bale, Sherri J, Ledbetter, David H

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 316 KB

english, 2008

9

Molecular testing: improving patient care through partnering with laboratory genetic counselors

Scacheri, Cheryl, Redman, Joy B, Pike-Buchanan, Lisa, Steenblock, Kelle

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 352 KB

english, 2008

10

Issues in genetic testing for ultra-rare diseases: background and introduction

Ledbetter, David H, Faucett, W Andrew

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

11

Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme

Bodensteiner, David, Scott, C Ronald, Sims, Katherine B, Shepherd, Gillian M, Cintron, Rebecca D, Germain, Dominique P

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 196 KB

english, 2008

12

College News

Journal:

Genetics in Medicine

Year:

2008

File:

PDF, 1.52 MB

2008

13

Erratum

Journal:

Genetics in Medicine

Year:

2008

File:

PDF, 37 KB

2008

14

College News

Journal:

Genetics in Medicine

Year:

2008

File:

PDF, 1.52 MB

2008

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